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Gene: Ryk MGI:101766

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Gene Summary

Name:
receptor-like tyrosine kinase
Synonyms:
ERK-3,  Vik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
cleft palate Rykem1(IMPC)Mbp HOM E15.5 0.00
persistence of hyaloid vascular system Rykem1(IMPC)Mbp HET Early adult 1.94×10-06
abnormal skin morphology Rykem1(IMPC)Mbp HET Early adult 0.00
increased leukocyte cell number Rykem1(IMPC)Mbp HET Early adult 1.96×10-05
abnormal heart morphology Rykem1(IMPC)Mbp HET Early adult 0.00
embryonic growth retardation Rykem1(IMPC)Mbp HOM E15.5 0.00
enlarged heart Rykem1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Rykem1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Rykem1(IMPC)Mbp HOM E15.5 0.00
increased lymphocyte cell number Rykem1(IMPC)Mbp HET Early adult 4.37×10-07
increased monocyte cell number Rykem1(IMPC)Mbp HET Early adult 6.24×10-05
abnormal spleen morphology Rykem1(IMPC)Mbp HET Early adult 0.00
eye hemorrhage Rykem1(IMPC)Mbp HET Early adult 2.59×10-07
abnormal craniofacial morphology Rykem1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Rykem1(IMPC)Mbp HOM   Early adult 0.00
edema Rykem1(IMPC)Mbp HOM E15.5 0.00
enlarged kidney Rykem1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Rykem1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Rykem1(IMPC)Mbp HET E15.5 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

36 Images

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Gross Morphology Embryo E14.5-E15.5

Images

15 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

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Human diseases caused by Ryk mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ryk by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Retrognathia, Talipes, Radi... OMIM:227270
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Microphthalmia With Limb Anomalies
Retrognathia, Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocati... OMIM:206920
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Cleft hard palate, Small epiphyses, Delayed epiphyse... ORPHA:166016
Acromesomelic Dysplasia 2A
Disproportionate short-limb short stature, Acromesomelia, Death in infancy, Short humerus, Aplasi... OMIM:200700
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... ORPHA:1972
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hepatosplenomegaly, Hyperechogenic ki... OMIM:617610
17Q21.31 Microduplication Syndrome
Delayed puberty, Short nose, Clinodactyly of the 5th finger, Sandal gap, Short philtrum, Antevert... ORPHA:217340
Leri-Weill Dyschondrosteosis
Limited elbow movement, Disproportionate short-limb short stature, Tibial bowing, Increased carry... OMIM:127300
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Short philtrum, Wide anterior fontanel... OMIM:201170
Seckel Syndrome 1
Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr... OMIM:210600
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Postnatal growth retardation, Microphthalmia, Short first metatarsal, Uln... OMIM:619135
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Renal... OMIM:619902
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microphthalmia, Cutaneous photosensitivity, Microcephaly, Micrognathia, Cleft... OMIM:616570
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Severe postnatal growth retardation, Elbow flexion contracture, Forearm u... OMIM:249600
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Purpura, Nephrotic range proteinuria, Abnormal T cell count, Mesan... OMIM:613496
Acrodysostosis
Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Coxa valga, Genu varum, Hypop... ORPHA:950
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Thin vermilion border, Fibular hypoplasia, Narrow mouth, Microcephaly, Sh... OMIM:612447
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Hematuria, Petechiae, Gingival bleeding, Thrombocytopenia, ... ORPHA:3002
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Sandal gap, Relative macrocephaly, Gait ataxia, Wide mouth, Polymicrogyria, Shor... OMIM:300354
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Wide nose, Decreased body weight, Everted lower lip vermilion, Thick nasa... ORPHA:357175
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Wide nose, Decreased body weight, Everted lower lip vermilion, Thick nasa... OMIM:615162
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... OMIM:164745
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Disproportionate short-limb short statur... ORPHA:240
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ... ORPHA:1106
Bowen-Conradi Syndrome
Rocker bottom foot, Orofacial cleft, Clinodactyly of the 5th finger, Severe postnatal growth reta... ORPHA:1270
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic... OMIM:228520
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Disproportionate short-limb short stature, Aplasia/Hypopla... ORPHA:2098
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp... OMIM:268305
Saul-Wilson Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Overtubulated long bones, I... OMIM:618150
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands, Swollen lip OMIM:619363
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Temporomandibu... OMIM:164900
Coffin-Siris Syndrome 3
Central diaphragmatic hernia, Wide nose, Dandy-Walker malformation, Anteverted nares, Abnormal co... OMIM:614608
Coffin-Siris Syndrome 2
Sandal gap, Microcephaly, Wide mouth, Long philtrum, Short distal phalanx of finger, Intrauterine... OMIM:614607
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Tooth malposition, Distal ulnar hypoplasia, Micr... OMIM:277150
Intellectual Developmental Disorder, X-Linked 91
Short nose, Cubitus valgus, High palate, Short foot, Obesity, Short 5th finger, Clinodactyly, Mac... OMIM:300577
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Bullous Dystrophy, Hereditary Macular Type
Short finger, Death in childhood, Microcephaly, Severe short stature, Acrocyanosis, Tapered finger OMIM:302000
Eiken Syndrome
Fibular hypoplasia, Cubitus valgus, Delayed epiphyseal ossification, Broad palm, Abnormal acetabu... ORPHA:79106
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Eiken Syndrome
Delayed ossification of carpal bones, Eruption failure, Flat acetabular roof, Broad metatarsal, M... OMIM:600002
Spinocerebellar Ataxia, Autosomal Recessive 20
Wide nasal base, Inability to walk, Delayed eruption of teeth, Dental crowding, Anteverted nares,... OMIM:616354
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Microphthalmia, Relative macrocephaly, Short ribs, Short long bone,... OMIM:616300
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Macroglossia ORPHA:1423
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Short nose, Clinoda... ORPHA:2557
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Disproportionate short stature, Abnormal tibia morpho... ORPHA:2634
Cofs Syndrome
Microphthalmia, Talipes, Cutaneous photosensitivity, Cerebral calcification, Everted lower lip ve... ORPHA:1466
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormal palate morphology, Short nose, Cachexia, Postaxial hand polydactyly, Short stature, Micr... ORPHA:1389
Orofaciodigital Syndrome Type 10
Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso... ORPHA:2756
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Growth delay, Short stature, Malar flattening, Brachydactyly, Short 5th fing... ORPHA:52056
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Mcdonough Syndrome
Bilateral single transverse palmar creases, Abnormal palate morphology, Short philtrum, Cachexia,... ORPHA:2471
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Short stature, Micrognathia, Cleft palate, Thin upper lip vermilion ORPHA:2015
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney... OMIM:615382
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala... OMIM:271700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hypoplasia of the corpus callosum, Muscular dystrophy, Microphthalmia, Inability to walk, Focal c... OMIM:613155
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Disproportionate short stature, Type E brachydac... ORPHA:1856
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Pr... ORPHA:1788
Brachydactyly Type A1
Hypoplasia of the ulna, Cone-shaped epiphysis, Clinodactyly of the 5th finger, Distal symphalangi... ORPHA:93388
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Disproportionate short-limb short stature, Mesome... ORPHA:2632
Renpenning Syndrome
Abnormal thumb morphology, High, narrow palate, Clinodactyly of the 5th finger, Short philtrum, C... ORPHA:3242
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Dislocated r... OMIM:602471
Gombo Syndrome
Delayed puberty, Microphthalmia, Radial deviation of finger, Microcephaly, Brachydactyly, Clinoda... OMIM:233270
Syngnathia
Cleft palate OMIM:119550
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Microphthalmia, Proximal placement of thumb, Hypoplastic pubic r... OMIM:609945
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cerebral atrophy, Hypoplasia of the corpus callosum, Global brain atrophy, Inability to walk, Sho... OMIM:616801
Pierpont Syndrome
Deep plantar creases, Microphthalmia, Prominent fingertip pads, Everted lower lip vermilion, Micr... OMIM:602342
Anauxetic Dysplasia 2
Cubitus valgus, Relative macrocephaly, Coxa vara, Hypoplasia of the femoral head, Hypoplastic ili... OMIM:617396
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Abnormal palate morphology, Narrow nasal bridge, Abnormal dental ... ORPHA:1798
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Broad-based gait, Increased body weight, Relative macrocephaly, Congen... OMIM:614450
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Christianson Syndrome
Abnormality of the nose, Death in early adulthood, Cachexia, Mandibular prognathia, Truncal ataxi... ORPHA:85278
Fryns-Smeets-Thiry Syndrome
Thick lower lip vermilion, Short philtrum, Narrow nasal bridge, Cachexia, Everted lower lip vermi... ORPHA:2058
Mesomelic Limb Shortening And Bowing
Retrognathia, Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Microg... OMIM:249710
Alpha-Mannosidosis
Narrow palate, Generalized abnormality of skin, Macrocephaly, Widely spaced teeth, Craniofacial h... ORPHA:61
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Skeletal muscle h... ORPHA:314795
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Acrocapitofemoral Dysplasia
Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Hy... OMIM:607778
Craniosynostosis-Mental Retardation-Clefting Syndrome
Orofacial cleft, Forearm undergrowth, Microcephaly, Lower limb undergrowth, Convex nasal ridge OMIM:218650
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... OMIM:186500
Non-Distal Duplication 10Q
Short nose, High palate, Everted lower lip vermilion, Microcephaly, Aplasia/Hypoplasia affecting ... ORPHA:1695
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Abnormality of the hand, Anterior ... OMIM:605274
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Temporomandibular joint ankylosis, Micrognathia, Cleft palate, Wei... ORPHA:141152
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Nephrotic syndrome, N... OMIM:619644
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Short nose, Gingival fibromatosis, Anteverted nares, Gingival overgrowth, Mandibula... ORPHA:1832
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hypoplasia of the ulna, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... ORPHA:1352
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... ORPHA:2256
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Kinsship Syndrome
Dislocated radial head, Death in infancy, Microcephaly, Mesomelia, Wide mouth, Primary microcepha... OMIM:619297
W Syndrome
Hypoplasia of the ulna, Pes cavus, Cubitus valgus, Broad uvula, Camptodactyly, Metatarsus adductu... ORPHA:2804
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Microcephaly, Arachnodactyly, Intrauterine growth retardation, Severe failure to thrive... ORPHA:371364
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, High, narrow palate, Short nose, Convex nasal r... ORPHA:3258
Neuropathy, Congenital Hypomyelinating, 3
Hypoplasia of the corpus callosum, Retrognathia, Narrow palate, Hypomimic face, Abnormal foot mor... OMIM:618186
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Abnormal shoulder morphology, Tooth agenesis, Micrognathia, Mesomelia... ORPHA:1277
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebral atrophy, Broad finger, Hypoplasia of the corpus callosum, Periventricular leukomalacia, ... OMIM:616900
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short nose, Bilateral microphthalmos, Widely spaced teeth, Abnormal foot morphology, Abnormality ... ORPHA:369891
Chondrodysplasia With Joint Dislocations, Gpapp Type
Irregular epiphyses of the metacarpals, Short long bone, Short metacarpal, Patellar dislocation, ... OMIM:614078
Atelosteogenesis, Type I
Disproportionate short-limb short stature, Tibial bowing, Clubbing, Short metacarpal, Short humer... OMIM:108720
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Talipes, Micromelia, Metatarsus adductus, Broad... ORPHA:2249
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Bone marrow hypocellularity, Leukopenia, Monocytosis OMIM:616871
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Congenital diaphragmatic hernia, Orofacial clef... ORPHA:958
Seckel Syndrome 2
Microphthalmia, Clinodactyly of the 5th finger, Microdontia, Microcephaly, Short stature, Microgn... OMIM:606744
Mmep Syndrome
Orofacial cleft, Microphthalmia, Triphalangeal thumb, Mandibular prognathia, Split foot, Microcep... ORPHA:3434
Ring Chromosome 10 Syndrome
Thin vermilion border, Microphthalmia, Aganglionic megacolon, Sandal gap, Cachexia, Intrauterine ... ORPHA:1438
Kaposiform Lymphangiomatosis
Enlarged kidney, Abnormal bleeding, Anemia, Epidural hemorrhage, Abnormality of the lymphatic sys... ORPHA:464329
Vitamin K Antagonist Embryofetopathy
Short nose, Epiphyseal stippling, Anteverted nares, Choanal atresia, Aplasia/Hypoplasia affecting... ORPHA:1914
Mulibrey Nanism
Macrocephaly, Cachexia, Short stature, Intrauterine growth retardation, Wide nasal bridge ORPHA:2576
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Short philtrum, Flared metaphysis, Premature loss of teeth, Short middle p... OMIM:156510
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Femoral bowing, Short ribs, Short long bone, Absent tibia, Intestinal malrotation, Cone-shaped ep... OMIM:613091
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Hypoplasia of the corpus callosum, Abnormal palate morphology, Short nose, Talipes, Narrow mouth,... ORPHA:1495
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc... OMIM:602418
Megaepiphyseal Dwarfism
Short stature, Cleft palate, Severe short stature OMIM:249230
Liang-Wang Syndrome
Cerebral atrophy, Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, ... OMIM:618729
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Metacarpal osteolysis, Wrist swelling, Abnormality of the wrist, Carpal osteolysis, Slender long ... ORPHA:2774
Microcephaly-Micromelia Syndrome
Microphthalmia, Wide nose, Oligodactyly, Narrow mouth, Forearm undergrowth, Micromelia, Humerorad... OMIM:251230
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Mandibular prognathia, Open bite, Microdontia, Tooth age... ORPHA:1248
Autosomal Spastic Paraplegia Type 18
Hypoplasia of the corpus callosum, Ankle flexion contracture, Flexion contracture of toe, Inabili... ORPHA:209951
Pierpont Syndrome
Microphthalmia, Prominent fingertip pads, Everted lower lip vermilion, Broad philtrum, Primary mi... ORPHA:487825
Ethanolaminosis
Cardiomegaly OMIM:227150
Perching Syndrome
High palate, Camptodactyly, Joint contracture, Cyanosis, Depressed nasal bridge OMIM:617055
Intellectual Developmental Disorder, Autosomal Dominant 1
Retrognathia, Sandal gap, Everted lower lip vermilion, Microdontia, Microcephaly, Wide mouth, Ata... OMIM:156200
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Arthralgia of ... ORPHA:166002
Pallister-Hall-Like Syndrome
Short nose, Macrocephaly, Short ribs, Postaxial hand polydactyly, Micromelia, Microcephaly, Death... OMIM:241800
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertrophy, Scapular winging, Lower limb mu... OMIM:616052
Trisomy 17P
Microcephaly, Wide mouth, Intrauterine growth retardation, Short stature, Cleft palate, Malar fla... ORPHA:261290
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, High, narrow palate, Hypodontia, Tapered finger, Glossoptosis, Microcephaly... ORPHA:3201
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Abnormal nostril morphology, Abnormality of the wrist, Radial club hand, ... ORPHA:2878
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Retrognathia, Microphthalmia, Anophthalmia, Intestinal malrotati... OMIM:615524
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Microphthalmia, Rhizomelia, Short philtrum, Hypoplastic iliac wing, Abnormality of th... ORPHA:163966
Robinow Syndrome, Autosomal Recessive 2
Sandal gap, Prominent fingertip pads, Relative macrocephaly, Broad thumb, Mesomelia, Long philtru... OMIM:618529
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Tip-toe gait, Muscular dystrophy, Difficulty walking, Weakness of facial musculature, Calf muscle... OMIM:606612
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Enamel hypoplasia, Micro... OMIM:212780
Intellectual Developmental Disorder, Autosomal Recessive 30
Microcephaly, Macroglossia, Growth delay OMIM:614342
Distal Duplication 5Q
Hypoplasia of the ulna, Hypoplasia of the radius, Thin vermilion border, Short nose, Narrow mouth... ORPHA:96097
Ulnar Hypoplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... OMIM:191440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Elbow flexion contractu... OMIM:608840
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate... OMIM:268310
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Campomelic Dysplasia
Fibular hypoplasia, Macrocephaly, 11 pairs of ribs, Tibial bowing, Femoral bowing, Bowing of the ... ORPHA:140
Orofaciodigital Syndrome X
Fibular aplasia, Retrognathia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescen... OMIM:165590
Campomelic Dysplasia
Disproportionate short-limb short stature, Absent sternal ossification, Dislocated radial head, H... OMIM:114290
3M Syndrome
Rocker bottom foot, Abnormal metaphysis morphology, Hypoplasia of the ulna, Clinodactyly of the 5... ORPHA:2616
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Microphthalmia, Hypoplast... OMIM:617925
Desbuquois Dysplasia 1
Sandal gap, Disproportionate short-limb short stature, Flat acetabular roof, Broad femoral neck, ... OMIM:251450
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Postnatal growth retardation, Abnormal foot mor... OMIM:263750
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Keipert Syndrome
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Macrocephaly, Short hallux, Exagg... ORPHA:2662
Orofaciodigital Syndrome Vi
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... OMIM:277170
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Boomerang Dysplasia
Fibular aplasia, Hypoplastic nasal septum, Hypoplastic iliac body, Neonatal death, Severe short s... OMIM:112310
X-Linked Intellectual Disability, Cabezas Type
Sandal gap, Cachexia, Microcephaly, Wide mouth, Short philtrum, Broad-based gait, Biparietal narr... ORPHA:85293
Temtamy Preaxial Brachydactyly Syndrome
Radial deviation of finger, Clinodactyly of the 2nd finger, Microdontia, Abnormal spaced incisors... ORPHA:363417
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Hypoplasia of the corpus callosum, Muscular dystrophy, Inability to walk, Cerebellar vermis hypop... OMIM:613156
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Depressed nasa... OMIM:118651
Van Den Ende-Gupta Syndrome
Narrow foot, Dislocated radial head, Dental crowding, Femoral bowing, Short ribs, Everted lower l... OMIM:600920
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Microphthalmia, Death in childhood, Cutaneous photosensitivity, Intrauterine ... OMIM:610756
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Inability to walk, Progressive microcephaly, Dandy-Walker malformation, Short stature... ORPHA:438178
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Acromicric Dysplasia
Short nose, Abnormal femur morphology, Thick lower lip vermilion, Anteverted nares, Narrow mouth,... ORPHA:969
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Abnormal foot morpholo... ORPHA:75508
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Microphthalmia, Narrow mouth, High palate, Microcephaly, Growth delay, Short stature ORPHA:2528
Microphthalmia, Syndromic 8
Orofacial cleft, Microphthalmia, Premature skin wrinkling, Mandibular prognathia, Split foot, Mic... OMIM:601349
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Hypot... ORPHA:85445
Frontonasal Dysplasia 1
Short columella, Widely-spaced maxillary central incisors, Radial deviation of finger, Microphtha... OMIM:136760
Chromosome 5Q12 Deletion Syndrome
Postnatal growth retardation, Decreased body mass index, Short philtrum, Low hanging columella, P... OMIM:615668
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Tetrasomy 12P
Short nose, Abnormal soft palate morphology, Delayed eruption of teeth, Cachexia, Anteverted nare... ORPHA:884
Trimethylaminuria
Trimethylaminuria, Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Non-midline cleft of the upp... ORPHA:246
Zimmermann-Laband Syndrome
Supernumerary tooth, Deep plantar creases, Pes cavus, Deep palmar crease, Wide nose, Gingival fib... ORPHA:3473
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Warburg Micro Syndrome 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Thin vermilion border, Microphthalmia, Cereb... OMIM:600118
Odontochondrodysplasia
Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Short nose, Delayed eruption of... ORPHA:166272
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Microphthalmia, Intrauterine growth retardation, Microcephaly, Hypoplasia of th... OMIM:616171
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-... ORPHA:174
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Hypoplasia of the corpus callosum, Thick lower lip vermilion, Clinodactyly of the 5th finger, Joi... OMIM:614407
Temtamy Syndrome
Convex nasal ridge, Abnormal palate morphology, Microphthalmia, Macrocephaly, Clinodactyly of the... ORPHA:1777
14Q11.2 Microdeletion Syndrome
Short nose, Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Toe ... ORPHA:261120
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Dental crowding, Intestinal malrotation, Arachnodactyly, Paranasal si... OMIM:300373
Hypothyroidism, Congenital, Nongoitrous, 4
Severe postnatal growth retardation, Wide anterior fontanel, Macroglossia, Depressed nasal bridge OMIM:275100
Phocomelia, Schinzel Type
Aplasia/Hypoplasia involving the pelvis, Tracheoesophageal fistula, Intrauterine growth retardati... ORPHA:2879
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Broad thumb, Mesomelia, Wide mouth, Long philtrum, Short distal phalanx of finge... OMIM:616331
Cousin Syndrome
Microphthalmia, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypopl... OMIM:260660
Aredyld Syndrome
Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Mandibu... ORPHA:1133
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Short nose, Generalized limb muscle atrophy, High palate, Microcephaly, Microgna... ORPHA:2598
Alg6-Cdg
Protein-losing enteropathy, Jaundice, Shortening of all distal phalanges of the fingers, Failure ... ORPHA:79320
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Jaundice, Skeletal muscle hypertrophy, Gait disturbance, Short stature, Macroglossia, Myopathy ORPHA:2349
Neuralgic Amyotrophy
Scapular winging, Upper limb muscle weakness, Narrow mouth, Short stature, Cleft palate, Bifid uv... ORPHA:2901
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Macrocephaly, High palate, Hypoplasia of the maxilla, Camptodactyly of finger, Short palm, Clinod... ORPHA:85279
Alg3-Cdg
Hypoplasia of the corpus callosum, Abnormality of the nose, Dandy-Walker malformation, Cerebral w... ORPHA:79321
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Calf muscle hypertrophy, Skeletal muscle atrophy, Macroglossia, Triangular to... OMIM:616827
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Atelosteogenesis, Type Ii
Stillbirth, Sandal gap, Bifid humerus, Hitchhiker thumb, Short greater sciatic notch, Flat acetab... OMIM:256050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short nose, Anteverted nares, Protruding tongue, Sinusitis, Failure to thrive, Micrognathia, Shor... OMIM:242860
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop... OMIM:615415
Tetrasomy 5P
Postnatal growth retardation, Long philtrum, Short nose, Macrocephaly, Clinodactyly of the 5th fi... ORPHA:3309
Anauxetic Dysplasia 1
Limited elbow extension, Short finger, Rhizomelia, Small epiphyses, Flared metaphysis, Delayed os... OMIM:607095
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol... OMIM:263200
Peho-Like Syndrome
Hypoplasia of the corpus callosum, Retrognathia, Short nose, Progressive microcephaly, Polymicrog... OMIM:617507
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Short stature, Hypoplasia of the maxilla, Broad nasal tip, Short di... ORPHA:2776
2Q24 Microdeletion Syndrome
Microphthalmia, Short philtrum, Bullet-shaped distal phalanx of the hallux, Camptodactyly of fing... ORPHA:1617
Robinow Syndrome, Autosomal Dominant 1
Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon... OMIM:180700
Omodysplasia 1
Limited elbow extension, Short nose, Fibular hypoplasia, Limited knee flexion/extension, Rhizomel... OMIM:258315
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Wide nasal base, Broad-based gait, Dental crowding, Relative macrocephaly, High palate, Camptodac... ORPHA:397709
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Finger syndactyly, Aplasia/Hypoplasia of the pat... ORPHA:3320
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Cerebral atrophy, Large for gestational age, Macrocephaly, Short nose, An... OMIM:615398
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Chromosome 6Q11-Q14 Deletion Syndrome
Pes cavus, Short nose, Single transverse palmar crease, High palate, Microcephaly, Short stature,... OMIM:613544
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Dislocated radial head, Hypoplastic ischia, Aplasia/Hypoplasia o... ORPHA:2839
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Abs... OMIM:274000
Braddock-Carey Syndrome 2
Retrognathia, Microphthalmia, Microcephaly, Cleft palate, Pierre-Robin sequence, Wide mouth, Bulb... OMIM:619981
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Flexion contracture of toe, Dislocated radial head, Steep acetabular roof, Wr... OMIM:610758
19Q13.11 Microdeletion Syndrome
Retrognathia, Thin vermilion border, Clinodactyly of the 5th finger, Solitary median maxillary ce... ORPHA:217346
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose, Macrocephaly, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Gai... ORPHA:2429
Atelosteogenesis, Type Iii
Widened distal phalanges, Rhizomelia, Tombstone-shaped proximal phalanges, Sandal gap, Hitchhiker... OMIM:108721
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Microcephaly, Long philtrum, Intrauterine growth retardation, Primary microcepha... ORPHA:391408
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ... ORPHA:3104
Moebius Syndrome
Microphthalmia, Radial deviation of finger, Facial diplegia, Bifid uvula, Syndactyly, Abnormal na... OMIM:157900
Clark-Baraitser Syndrome
Short nose, Sandal gap, Short philtrum, Low hanging columella, Anteverted nares, Exaggerated cupi... OMIM:617752
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Tip-toe gait, Broad-based gait, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Scapular ... ORPHA:353
Zimmermann-Laband Syndrome 2
Gingival overgrowth, Bifid nasal tip, Short stature, Prominent nasal septum, Thick vermilion bord... OMIM:616455
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Short nose, Clinodactyly of the 5th finger... ORPHA:2370
Foxg1 Syndrome Due To 14Q12 Microdeletion
Short nose, Mandibular prognathia, Everted lower lip vermilion, Microcephaly, Growth delay, Tente... ORPHA:261144
Mesomelia-Synostoses Syndrome
Abnormal femur morphology, Abnormal oral frenulum morphology, Mesomelia, Long philtrum, Abnormali... ORPHA:2496
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge... ORPHA:2141
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Short nose, Jaundice, Severe postnatal growth retardation, Anteverted nares, Short stature, Failu... OMIM:613038
Pseudoachondroplasia
Disproportionate short-limb short stature, Short long bone, Flat acetabular roof, Increased laxit... ORPHA:750
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Orofaciodigital Syndrome Xix
Retrognathia, Bifid nasal tip, Microdontia, Accessory oral frenulum, Tongue nodules, Narrow palat... OMIM:620107
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Retrognathia, Short nose, Macrocephaly, Obesity, Broad nasal tip, Malar flattening, Open mouth, F... OMIM:613670
2q33.1 deletion syndrome
Short stature, Cleft palate, High palate DECIPHER:51
Xeroderma Pigmentosum, Complementation Group G
Pes cavus, Microphthalmia, Cutaneous photosensitivity, Microcephaly, Growth delay, Ataxia, Small ... OMIM:278780
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Retrognathia, Thin vermilion border, Abnormal metacarpal morpholo... ORPHA:2631
Teebi Hypertelorism Syndrome 2
Short nose, Clinodactyly of the 5th finger, Delayed eruption of teeth, Wide anterior fontanel, Hi... OMIM:619736
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Hypoplasia of the corpus callosum, Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped... OMIM:617102
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Macrocephaly, Abnormal metacarpal morphology, Abnormality of the wrist, Aplasi... ORPHA:1307
Gm1 Gangliosidosis
Ataxia, Abnormal epiphysis morphology, Long philtrum, Short stature, Failure to thrive, Coarse me... ORPHA:354
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Peripheral cystoid retinal degeneration, Retinal pigment epi... OMIM:312700
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Limited elbow movement, Limitation of knee mobility, Bilateral ulnar hypoplasia OMIM:276821
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short nose, Microphthalmia, Abnormal femoral neck/head morphology, Abnormality of the elbow, Hemi... ORPHA:163649
Seckel Syndrome
Clinodactyly of the 5th finger, Sandal gap, Prematurely aged appearance, Abnormal dental enamel m... ORPHA:808
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Macrocephaly, Dis... ORPHA:3144
Maxillonasal Dysplasia, Binder Type
Short nose, Short distal phalanx of finger, Dental malocclusion, Depressed nasal bridge, Short co... OMIM:155050
Jackson-Weiss Syndrome
Convex nasal ridge, Abnormal fibula morphology, Abnormal palate morphology, Short metatarsal, 2-3... ORPHA:1540
Sponastrime Dysplasia
Disproportionate short-limb short stature, Relative macrocephaly, Short long bone, Short dental r... ORPHA:93357
Ruvalcaba Syndrome
Limited elbow extension, Delayed puberty, Short metatarsal, Dental crowding, Underdeveloped nasal... OMIM:180870
Verheij Syndrome
Cerebral atrophy, Retrognathia, Short nose, Small for gestational age, Optic nerve hypoplasia, An... OMIM:615583
Congenital Disorder Of Deglycosylation 2
Short columella, Thin corpus callosum, Macrocephaly, Sandal gap, Cerebellar vermis hypoplasia, Po... OMIM:619775
Autosomal Recessive Omodysplasia
Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Rhizomelia, Anteverted nar... ORPHA:93329
Peroxisome Biogenesis Disorder 1A (Zellweger)
Rocker bottom foot, Prolonged neonatal jaundice, Polymicrogyria, Anteverted nares, Ulnar deviatio... OMIM:214100
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Ankle flexion contracture, Cyanotic episode, Cerebellar vermis... ORPHA:284417
Orofaciodigital Syndrome Ii
Bifid nasal tip, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, P... OMIM:252100
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Microphthalmia, Macrocephaly, Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypo... OMIM:300863
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Long philtrum, Intrauterine growth retardation, Cone-shaped e... ORPHA:439822
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Thin corpus callosum, Inability to walk, Microcephaly, Shortening of all distal phala... OMIM:615716
Congenital Muscular Dystrophy Due To Lmna Mutation
Talipes, Cachexia, Gait disturbance, Death in infancy, Flexion contracture, Skeletal muscle atrop... ORPHA:157973
Miller-Dieker Syndrome
Hypoplasia of the corpus callosum, Short nose, Clinodactyly of the 5th finger, Anteverted nares, ... ORPHA:531
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Hypoplasia of the radius, Bilateral cleft palate, Finger aplasia, Short s... OMIM:614900
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Rhizomelia, Abnormality of the elbow, Wide anterior fontanel, High palate, A... ORPHA:3098
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Prolonged neonatal jaundice, Abnormal epiphysis... ORPHA:95717
Chromosome 14Q11-Q22 Deletion Syndrome
Hypoplasia of the corpus callosum, Short nose, Hip subluxation, Thin corpus callosum, Inability t... OMIM:613457
19P13.13 Microdeletion Syndrome
Deep plantar creases, Short nose, Macrocephaly, Sandal gap, Optic nerve hypoplasia, Anteverted na... ORPHA:357001
Triploidy
Macrocephaly, Finger syndactyly, Non-midline cleft of the upper lip, Narrow mouth, Intestinal mal... ORPHA:3376
Hall-Riggs Syndrome
Abnormal metaphysis morphology, Delayed eruption of teeth, Abnormal dental enamel morphology, Ant... ORPHA:2107
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Rocker bottom foot, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Exaggerated cup... OMIM:618506
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Microphthalmia, Microcephaly, Long philtrum, Coxa valga, Elbow flexion contra... OMIM:214150
Rhizomelic Chondrodysplasia Punctata, Type 2
Rhizomelia, Epiphyseal stippling, Optic nerve hypoplasia, Anteverted nares, Stippled calcificatio... OMIM:222765
20P12.3 Microdeletion Syndrome
Macrocephaly, Narrow mouth, Broad thumb, Hypoplasia of the maxilla, Short stature, Malar flatteni... ORPHA:261295
Fanconi Anemia, Complementation Group S
Narrow palate, Microphthalmia, Proximal placement of thumb, Anteverted nares, Underdeveloped nasa... OMIM:617883
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Death in childhood, Clinodactyly of the 5th finger, Anteverted nares, 2-3 toe syndactyly, Elbow f... OMIM:616809
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Pulmonary insufficiency,... OMIM:602088
Periventricular Nodular Heterotopia 7
1-4 toe syndactyly, Dental crowding, Contracture of the proximal interphalangeal joint of the 3rd... OMIM:617201
Otopalatodigital Syndrome Type 2
Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Anodontia, Fibular aplasia, Tarsal ... ORPHA:90652
Cornelia De Lange Syndrome 2
Postnatal growth retardation, Limited elbow movement, Proximal placement of thumb, Anteverted nar... OMIM:300590
Juberg-Hayward Syndrome
Hypoplasia of the radius, Orofacial cleft, Abnormality of the wrist, Abnormal metacarpal morpholo... ORPHA:2319
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Cachexia, Abnormality of the lower limb, Abnormality of the upper limb... ORPHA:1979
Cohen Syndrome
Delayed puberty, Childhood-onset truncal obesity, Short metacarpal, Microcephaly, Short philtrum,... OMIM:216550
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome
Ankle flexion contracture, Short philtrum, Ankle clonus, Elbow flexion contracture, High palate, ... ORPHA:280384
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares, Hypointensity of cerebral white matter on MRI, Microcephaly, Smooth... ORPHA:46
Rhizomelic Dysplasia, Patterson-Lowry Type
Short nose, Genu valgum, Rhizomelia, Wide nose, Mandibular prognathia, Deformed humeral heads, Sh... ORPHA:2831
Leukodystrophy, Hypomyelinating, 10
Cerebral atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Thin vermilion borde... OMIM:616420
Cornelia De Lange Syndrome 5
Retrognathia, Proximal placement of thumb, Microcephaly, Cutis marmorata, Long philtrum, Antevert... OMIM:300882
Ulnar Hypoplasia-Split Foot Syndrome
Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna ORPHA:1122
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Arachnodactyly, Cachexia ORPHA:1144
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ... OMIM:617604
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Cubitus valgus, Metaphyseal striations, Hypoplasia of the maxilla, Failure to thrive... OMIM:608154
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Pulmonar... OMIM:612541
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Dislocated radial head, Delayed ossification of c... OMIM:618395
Developmental Malformations-Deafness-Dystonia Syndrome
Orofacial cleft, Death in early adulthood, Femoral retroversion, Hypoplastic scapulae, Micromelia... ORPHA:79107
Boomerang Dysplasia
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd... ORPHA:1263
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Anteverted nares, Single transverse palmar crease, Glossoptosis, High palate, Camptod... OMIM:613604
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoplasia of the corpus callosum, Broad jaw, Exaggerated cupid's bow, High palate, Bulbous nose,... OMIM:614501
Silver-Russell Syndrome
Secondary microcephaly, Thin vermilion border, Postnatal growth retardation, Clinodactyly of the ... ORPHA:813
Diencephalic Syndrome
Cachexia, Large hands, Decreased body weight, Everted lower lip vermilion ORPHA:1672
Camptodactyly Syndrome, Guadalajara Type 1
Microcephaly, Short distal phalanx of finger, Intrauterine growth retardation, Anteverted nares, ... ORPHA:1327
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Retrognathia, 11 pairs of ribs, High palate, Camptodactyly, Prenatal death, M... OMIM:618393
Ivic Syndrome
Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ... OMIM:147750
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Craniofacial-Deafness-Hand Syndrome
Short nose, Abnormality of the wrist, Narrow mouth, Depressed nasal ridge, Hypoplasia of the maxi... ORPHA:1529
Achondroplasia
Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Trident hand, Hypoxemia, Sho... ORPHA:15
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Anteverted nares, Mandibular prognathia, Single transverse palmar c... OMIM:610253
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Everted lower lip vermilion, Bulbous nose, Wide mouth, Ataxia, Open mouth, Depressed nasal bridge... OMIM:616789
Duane-Radial Ray Syndrome
Microphthalmia, Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Abnor... OMIM:607323
Baraitser-Winter Syndrome 1
Postnatal growth retardation, Retrognathia, Orofacial cleft, Short nose, Microphthalmia, Antevert... OMIM:243310
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Microphthalmia, Rhizomelia, Proximal placement of thumb, Short ph... ORPHA:93267
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Microcephaly, Lower limb hypertonia, Short distal phalanx of finger, Talipes calcaneovarus, Furro... OMIM:300534
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Congestive heart failure, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic st... OMIM:617303
Femoral-Facial Syndrome
Abnormal fibula morphology, Orofacial cleft, Short nose, Aplasia/Hypoplasia of the corpus callosu... ORPHA:1988
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Short ribs, Broad thumb, Pos... OMIM:304120
Mucopolysaccharidosis Type 6
Abnormal metaphysis morphology, Genu valgum, Thick lower lip vermilion, Thick nasal alae, Sinusit... ORPHA:583
Autosomal Dominant Omodysplasia
Short nose, Rhizomelia, Short palm, Micrognathia, Short humerus, Malar flattening, Long philtrum,... ORPHA:93328
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Ragged-red muscle fibers, Cachexia, Slender build, Ataxia, Abnorma... OMIM:613662
Smith-Kingsmore Syndrome
Deep plantar creases, Megalencephaly, Hemimegalencephaly, Perisylvian polymicrogyria, Wide mouth,... OMIM:616638
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Abnormal oral cavity morphology, Anteverted nares, Narrow mouth, Depressed nasal ridg... ORPHA:1355
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Postnatal growth retardation, Bilateral facial palsy, Inability to walk, Bilateral talipes equino... ORPHA:319332
Angelman Syndrome
Secondary microcephaly, Widely spaced teeth, Broad-based gait, Mandibular prognathia, Protruding ... OMIM:105830
Weiss-Kruszka Syndrome
Dysplastic corpus callosum, Short nose, Clinodactyly of the 5th finger, Proximal placement of thu... ORPHA:502430
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Microc... ORPHA:364577
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Retrognathia, Cerebral atrophy, Difficulty walking, Inability to walk, Single... OMIM:611890
Developmental And Epileptic Encephalopathy 73
Hypoplasia of the corpus callosum, Short nose, Narrow nasal bridge, Microcephaly, Failure to thri... OMIM:618379
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Radial deviation of finger, Microcephaly, Clinodactyly, Coxa valga, Anteverted nares, Malar flatt... OMIM:301040
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Thin corpus callosum, Widely spaced teeth, Cubitus valgus, Wide nose, Anteverted ... OMIM:619694
Cog7-Cdg
Postnatal growth retardation, Retrognathia, Jaundice, Excessive wrinkled skin, Progressive microc... ORPHA:79333
Achondrogenesis Type 1B
Short nose, Disproportionate short stature, Macrocephaly, Anteverted nares, Micromelia, Micrognat... ORPHA:93298
Ring Chromosome 8 Syndrome
Deviation of finger, Abnormal palate morphology, Short nose, Anteverted nares ORPHA:1450
Marden-Walker Syndrome
Microphthalmia, Inferior cerebellar vermis hypoplasia, Microcephaly, Arachnodactyly, Long philtru... OMIM:248700
Congenital Varicella Syndrome
Microphthalmia, Micromelia, Microcephaly, Cerebral cortical atrophy, Intrauterine growth retardation ORPHA:291
Ulna Metaphyseal Dysplasia Syndrome
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal metacarpal morphology, Abnor... ORPHA:1837
Cranioectodermal Dysplasia 1
Radial deviation of finger, Short ribs, Everted lower lip vermilion, Microdontia, Short humerus, ... OMIM:218330
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Postnatal growth retardation, Short nose, Slender nose, Microcephaly, Micrognathia, Joint contrac... OMIM:615419
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Hypoglycosylation of alph... ORPHA:352479
Rett Syndrome
Secondary microcephaly, Cachexia, Truncal ataxia, Abnormality of the dentition, Gait apraxia, Gai... OMIM:312750
Sandestig-Stefanova Syndrome
Rocker bottom foot, Retrognathia, Hypoplasia of the corpus callosum, Orofacial cleft, Microphthal... OMIM:618804
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... OMIM:263300
Aarskog-Scott Syndrome
Everted lower lip vermilion, Long philtrum, Anteverted nares, Abnormality of the dentition, Short... ORPHA:915
Baller-Gerold Syndrome
Limited elbow movement, Carpal bone aplasia, Optic nerve hypoplasia, Oligodactyly, Severe intraut... OMIM:218600
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal metaphysis morphology, Narrow greater sciatic notch, Short iliac bones, Genu valgum, Abn... ORPHA:93316
Developmental And Epileptic Encephalopathy 95
Long nose, Microcephaly, Ataxia, Short distal phalanx of finger, Short 4th metacarpal, Short four... OMIM:618143
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Eosinophilia, Familial
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Thrombocytopenia, Eosinophilia OMIM:131400
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Postnatal growth retardation, Short nose, Death in childhood, Wide distal femoral metaphysis, Wid... OMIM:613320
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures
Cerebral atrophy, Cerebellar vermis hypoplasia, Anteverted nares, High palate, Corpus callosum at... OMIM:619876
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Microcephaly, Short... ORPHA:2491
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Thrombocytopenia, Splenomegaly, Bruising susceptibility ORPHA:721
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Leukopenia, Splenomegaly,... ORPHA:99827
Filippi Syndrome
Postnatal growth retardation, Thin vermilion border, Finger clinodactyly, Short philtrum, Low han... OMIM:272440
Lethal Congenital Contracture Syndrome 10
Narrow palate, Convex nasal ridge, Torticollis, Femoral bowing, High palate, Short long bone, Int... OMIM:617022
Feingold Syndrome 2
Secondary microcephaly, Postnatal growth retardation, Intestinal atresia, 2-3 toe syndactyly, Sho... OMIM:614326
Alg8-Cdg
Hypoplasia of the corpus callosum, Premature skin wrinkling, Camptodactyly, Cerebral cortical atr... ORPHA:79325
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Orofaciodigital Syndrome Type 5
Microcephaly, Abnormal oral frenulum morphology, Bifid uvula, Accessory oral frenulum, Aganglioni... ORPHA:2919
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Ragged-red muscle fibers, Facial palsy, Failure to thrive, Hyp... OMIM:500009
Tarp Syndrome
Rocker bottom foot, Meckel diverticulum, Glossoptosis, Intrauterine growth retardation, Tongue no... OMIM:311900
Coffin-Siris Syndrome 4
Everted upper lip vermilion, Microcephaly, Prominent interphalangeal joints, Wide mouth, Intraute... OMIM:614609
Aids Wasting Syndrome
Cachexia, Skeletal muscle atrophy, Weight loss ORPHA:90081
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, M... OMIM:266920
Edinburgh Malformation Syndrome
Thin vermilion border, Short nose, Anteverted nares, Narrow mouth, Choanal atresia, Slender finge... ORPHA:1895
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr... OMIM:620565
Pontocerebellar Hypoplasia, Type 9
Secondary microcephaly, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Facial h... OMIM:615809
3P25.3 Microdeletion Syndrome
Microphthalmia, Proximal placement of thumb, Broad thumb, Ataxia, Overlapping toe, Short philtrum... ORPHA:435638
Craniosynostosis, Herrmann-Opitz Type
Short nose, Finger syndactyly, Split hand, Micromelia, Short stature, Micrognathia, Cleft palate,... ORPHA:2145
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Relativ... OMIM:184260
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short nose, Anteverted nares, Short distal phalanx of toe, Narrow mouth, Microdontia, Bilateral t... OMIM:619356
Carey-Fineman-Ziter Syndrome 2
Hypomimic face, Pes cavus, High, narrow palate, Increased overbite, Dental crowding, Abnormal nas... OMIM:619941
Costello Syndrome
Narrow palate, Macrocephaly, Thick lower lip vermilion, Abnormal dental enamel morphology, Abnorm... ORPHA:3071
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short nose, Clinodactyly of the 5th finger, Inability to walk, Short philtrum, Anteverted nares, ... OMIM:613443
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Macrocephaly, Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the maxi... ORPHA:397973
Hartsfield Syndrome
Microphthalmia, Non-midline cleft of the upper lip, Split hand, Cleft palate, Aplasia/Hypoplasia ... ORPHA:2117
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Congenital diaphragmatic hernia, Narrow palate,... OMIM:200980
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the corpus callosum, Retrognathia, Postnatal macrocephaly, Retinal telangiectasia, ... OMIM:620157
Schwartz-Jampel Syndrome
Flexion contracture of toe, Cachexia, Everted lower lip vermilion, Wrist flexion contracture, Dea... ORPHA:800
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Hypoplastic nasal tip, Clubbing of fingers, Single transverse palmar cr... ORPHA:3304
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Short philtrum, Wide nose, Anteverted nares, High palate, Narrow mo... ORPHA:96184
Microcephaly-Capillary Malformation Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Short nose, Small for gestational age, Wide ... OMIM:614261
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cerebral atrophy, Thin vermilion border, Short nose, Abnormal septum pellucidum morphology, Antev... ORPHA:171839
Achondrogenesis Type 1A
Short nose, Macrocephaly, Anteverted nares, Micromelia, Short palm, Micrognathia, Severe short st... ORPHA:93299
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Otospondylomegaepiphyseal Dysplasia
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il... ORPHA:1427
Arms, Malformation Of
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis OMIM:107900
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Retrognathia, Mandibular prognathia, Microcephaly, Camptodactyly of finger, Micrognathia, Bifid u... ORPHA:2521
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Pes cavus, Short nose, Short stature, Primary microcephaly, Small for gestational age OMIM:245570
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Short nose, Microphthalmia, Non-midline cleft of the upper lip, ... ORPHA:1915
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Steinfeld Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb... OMIM:184705
Moynahan Syndrome
Microcephaly, Cachexia, Short stature ORPHA:2574
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Abnormal palate morphology, Abnormal shoulder morphology, Abnormality of th... ORPHA:1350
Non-Distal Duplication 13Q
Thin vermilion border, Short nose, Postaxial hand polydactyly, Everted lower lip vermilion, Abnor... ORPHA:1702
Alagille Syndrome
Hypoplasia of the ulna, Long nose, Delayed puberty, Clinodactyly of the 5th finger, Short philtru... ORPHA:52
Congenital Disorder Of Glycosylation, Type Iu
Secondary microcephaly, Short nose, Cerebral white matter atrophy, High palate, Congenital contra... OMIM:615042
Xk Aprosencephaly Syndrome
Abnormal nostril morphology, Microphthalmia, Narrow mouth, Anal atresia, Microcephaly, Abnormal m... ORPHA:3469
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia, Metacarpal osteolysis, Ankle swelling, Pes cavus, Wrist swelling... OMIM:166300
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Short metatarsal, Anteverted nares, Mandibular prognathia, Short metacarpal, Short ph... OMIM:614613
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac ... ORPHA:96334
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Postnatal growth retardation, Acromicria, Relative macrocephaly, Short foot, Micrognathia, Downtu... ORPHA:254525
Satb2-Associated Syndrome Due To A Pathogenic Variant
Postnatal growth retardation, Abnormality of the hand, Clinodactyly of the 5th finger, High palat... ORPHA:576283
Oculofaciocardiodental Syndrome
Microphthalmia, Solitary median maxillary central incisor, Bifid nasal tip, Flexion contracture o... ORPHA:2712
Congenital Muscular Dystrophy With Cerebellar Involvement
Muscular dystrophy, Microphthalmia, Skeletal muscle hypertrophy, Optic nerve hypoplasia, Type II ... ORPHA:370959
Malan Syndrome
Hypoplasia of the corpus callosum, Retrognathia, Advanced eruption of teeth, Macrocephaly, Short ... OMIM:614753
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Progressive microcephaly, Increased laxity of ankles, Broad thumb, Arachnodactyly, Ataxia, Long p... ORPHA:481152
Schneckenbecken Dysplasia
Stillbirth, Short nose, Macrocephaly, Disproportionate short-limb short stature, Snail-like ilia,... OMIM:269250
Coffin-Lowry Syndrome
Short metacarpal, Everted lower lip vermilion, Microcephaly, Wide mouth, Short distal phalanx of ... ORPHA:192
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Glycosylphosphatidylinositol Biosynthesis Defect 11
Wide nasal bridge, Macroglossia, High palate, Tented upper lip vermilion OMIM:616025
Nager Syndrome
Hypoplasia of the radius, Abnormal palate morphology, Triphalangeal thumb, Aplasia/Hypoplasia of ... ORPHA:245
C Syndrome
Radial deviation of finger, Dislocated radial head, Short metacarpal, Microcephaly, Wide mouth, A... OMIM:211750
Chung-Jansen Syndrome
Thin vermilion border, Short nose, Clinodactyly of the 5th finger, Short philtrum, Anteverted nar... OMIM:617991
Bartsocas-Papas Syndrome 2
Microphthalmia, Bilateral cleft palate, Wide anterior fontanel, Absent distal phalanges, 2-5 fing... OMIM:619339
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal foot bone ossification, Abnormal hand bone ossification, Abnor... OMIM:300244
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Short nose, Advanced eruption of teeth, Macrocephaly, Widely spaced teeth, Broad-based gait, Prog... OMIM:617865
Atelosteogenesis Type Ii
Wide nasal base, Sandal gap, Bilateral cleft palate, Short ribs, Short metacarpal, Short lower li... ORPHA:56304
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hydrolethalus
Retrognathia, Gingival cleft, Microphthalmia, Anencephaly, Anophthalmia, Postaxial hand polydacty... ORPHA:2189
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Death in infancy, Microcephaly, Arachnodactyly, Micrognathia, Cleft palate, Short s... ORPHA:93946
Mannosidosis, Alpha B, Lysosomal
Limb ataxia, Macrocephaly, Widely spaced teeth, Mandibular prognathia, Femoral bowing, Gingival o... OMIM:248500
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Long nose, Microphthalmia, Dental ... OMIM:257850
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short nose, Microphthalmia, Inferior cerebellar vermis hypoplasia, Difficulty walking, Inability ... OMIM:618571
Trisomy 18
Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Microphthalmia, Anen... ORPHA:3380
Tbck-Related Intellectual Disability Syndrome
Abnormal periventricular white matter morphology, Microcephaly, Long philtrum, Clinodactyly, Skel... ORPHA:488632
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Microcephaly... ORPHA:457395
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Hypertension, Lymphadenitis, Leukocytosis, Proteinuria, Cerebral hem... OMIM:618886
Achondrogenesis
Short nose, Macrocephaly, Anteverted nares, Micromelia, Micrognathia, Severe short stature, Long ... ORPHA:932
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Flared metaphysis, Anteverted nares, Short ribs, Intrauterine growth retardation, Dec... OMIM:616897
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Anteverted nares, Narrow mouth, Depressed nasal ridge, Congenital hip... ORPHA:2412
Renal Dysplasia
Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo... ORPHA:93108
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Postnatal growth retardation, Retrognathia, Anteverted nares, Single transverse palmar crease, Ex... ORPHA:254528
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Bradycardia, Fulminant hepatitis, Leukocytosis, Hypotension, Microscopic he... ORPHA:319213
Marshall Syndrome
Small proximal tibial epiphyses, Calcification of falx cerebri, Bifid uvula, Irregular femoral ep... OMIM:154780
Carey-Fineman-Ziter Syndrome
Aplasia of the pectoralis major muscle, Cerebral calcification, Glossoptosis, Microcephaly, Long ... ORPHA:1358
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia, Distal amyotrophy, Nonprogressive muscular atrophy ORPHA:1216
Cardioacrofacial Dysplasia 1
Genu valgum, Short philtrum, Conical tooth, Postaxial polydactyly, Hypoplasia of the maxilla, Lim... OMIM:619142
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Microc... OMIM:608670
Heart And Brain Malformation Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Global brain atrophy, Thick lower lip vermil... OMIM:616920
Mucolipidosis Ii Alpha/Beta
Thin corpus callosum, Short long bone, Flat acetabular roof, Flared iliac wing, Wide mouth, Bulle... OMIM:252500
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Jaundice, Irregular epiphyses, Early ossification of ... OMIM:208500
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ... OMIM:619802
Transient Neonatal Diabetes Mellitus
Intrauterine growth retardation, Failure to thrive, Macroglossia, Small for gestational age ORPHA:99886
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue, Abnormal pelvic girdle bone morphology, Micromelia, Gait disturbance, Camptodact... ORPHA:2928
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Microcephaly, Intestinal malrotation, Cutis marmorata, Syndactyly, Enamel agenesis, Long philtrum... OMIM:614701
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Patellar hypoplasia, Microcephaly, Failure to thrive, Microgna... ORPHA:2257
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of ... ORPHA:93307
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Delayed epiphyseal ossification, Absent ossification of capital femora... ORPHA:226313
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Hepatomegaly, Abnormal bleeding, Acute myeloid leuke... ORPHA:75564
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Acute rhabdomyolysis, Microphthalmia, Flexion contracture of toe, Finger joint contracture, Cereb... ORPHA:48431
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Sple... OMIM:269920
Chromosome 3Pter-P25 Deletion Syndrome
Retrognathia, Microcephaly, Long philtrum, Overlapping toe, Intrauterine growth retardation, Ante... OMIM:613792
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Microcepha... OMIM:170390
Perlman Syndrome
Bilateral single transverse palmar creases, Retrognathia, High, narrow palate, Macrocephaly, Shor... ORPHA:2849
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Oculoskeletodental Syndrome
Protein-losing enteropathy, Oligodontia, Elbow flexion contracture, Short stature, Broad columell... OMIM:618440
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Abnormality of the kidney, Gastrointestinal hemorrhage, Vitreous hemorrhage, Muscle ... ORPHA:464321
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Aarskog-Scott Syndrome
Delayed puberty, Radial deviation of finger, Syndactyly, Broad philtrum, Short 5th finger, Broad ... OMIM:305400
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S... OMIM:611263
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Abnormal bleeding, Thrombocytopenia, Splenomegaly, Bruising susce... ORPHA:231401
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Meckel Syndrome, Type 8
Polydactyly, Short nose, Microphthalmia, Anophthalmia, Depressed nasal ridge, Microcephaly, Cleft... OMIM:613885
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid... OMIM:618779
Alexander Disease Type I
Focal T2 hyperintense basal ganglia lesion, Cachexia, Failure to thrive, Ataxia, Abnormal cerebra... ORPHA:363717
Chromosome 19Q13.11 Deletion Syndrome, Distal
Retrognathia, Solitary median maxillary central incisor, Microcephaly, Intrauterine growth retard... OMIM:613026
Garg-Mishra Progeroid Syndrome
Secondary microcephaly, Postnatal growth retardation, Microphthalmia, Slender long bone, Dental c... OMIM:620601
Camurati-Engelmann Disease
Delayed puberty, Abnormal femur morphology, Cachexia, Ataxia, Craniofacial osteosclerosis, Coxa v... ORPHA:1328
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Decreased body weight, Anal atresia, Hypoplasia of the maxilla, Microcepha... ORPHA:93950
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormal hip bone morphology, Dental crowding, Tibial bowing, Relative macrocephaly, Microdontia,... ORPHA:251028
Flynn-Aird Syndrome
Cerebral calcification, Cachexia, Cerebral cortical atrophy, Carious teeth, Ataxia, Skeletal musc... ORPHA:2047
Icf Syndrome
Macrocephaly, Protruding tongue, Short stature, Micrognathia, Macroglossia, Depressed nasal bridge ORPHA:2268
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Hypertension, Epistaxi... ORPHA:340
Chromosome 16Q22 Deletion Syndrome
Postnatal growth retardation, Wide anterior fontanel, Single transverse palmar crease, High palat... OMIM:614541
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Thin vermilion border, Microphthalmia, Postnatal growth retard... OMIM:241410
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Retrognathia, Broad distal phalanx of finger, Disproportionate short-limb short stature, Microdon... OMIM:619194
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Periventricular leukomalacia, Retrognathia, Deep palmar crease, Short philtrum, Cleft soft palate... ORPHA:293725
Orofaciodigital Syndrome Viii
Polydactyly, Bifid nasal tip, High palate, Short stature, Cleft palate, Broad nasal tip, Syndacty... OMIM:300484
Recon Progeroid Syndrome
Thin vermilion border, Progeroid facial appearance, Proximal placement of thumb, Cutaneous photos... OMIM:620370
Diastrophic Dysplasia
Abnormal metaphysis morphology, Short finger, Neonatal short-limb short stature, Macrocephaly, Pr... ORPHA:628
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Hypoplasia of the corpus callosum, Short nose, Microphthalmia, S... OMIM:300887
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Long foot, Macrocephaly, Mandibular prognathia, High palate, Hypoplasia of the maxilla, Slender b... OMIM:300676
Foxp1 Syndrome
Retrognathia, Short nose, Macrocephaly, Single transverse palmar crease, Mandibular prognathia, P... ORPHA:391372
Martsolf Syndrome 1
Microphthalmia, Slender ulna, Short metacarpal, Microcephaly, Broad femoral neck, Long philtrum, ... OMIM:212720
Ruvalcaba Syndrome
Delayed puberty, Thin vermilion border, Short nose, Clinodactyly of the 5th finger, Proximal plac... ORPHA:3121
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Bilateral single transverse palmar creases, Multiple carpal ossification centers, Dislocated radi... OMIM:143095
17P13.3 Microduplication Syndrome
Hypoplasia of the corpus callosum, Short nose, Clinodactyly of the 5th finger, Wide nose, Narrow ... ORPHA:217385
Hereditary Methemoglobinemia
Global brain atrophy, Frontal cortical atrophy, Lip discoloration, Athetosis, Microcephaly, Small... ORPHA:621
Lujan-Fryns Syndrome
Macrocephaly, Short philtrum, Dental crowding, High palate, Abnormality of the dentition, Hypopla... ORPHA:776
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Short nose, Fibular hypoplasia, Hip subluxation, Anteverted nares, Glossoptosis, High palate, Mic... ORPHA:444077
Intellectual Developmental Disorder, Autosomal Recessive 68
Periventricular leukomalacia, Hypoplasia of the maxilla, Microcephaly, Pes planus, Wide nasal bri... OMIM:618302
Orofacial Cleft 13
Retrognathia, Cleft soft palate, Oligodontia, Micrognathia, Malar flattening OMIM:613857
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Obtuse angle of mandible, Temporomandibular joint ankylosis, Synostosi... ORPHA:2741
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the corpus callosum, Progressive microcephaly, Hypoplasia of the maxilla, Widely-sp... OMIM:618737
Immunodeficiency 84
B lymphocytopenia, Splenomegaly, Perianal abscess OMIM:619437
Sickle Cell Disease
Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis... OMIM:603903
Otoonychoperoneal Syndrome
Ankle flexion contracture, Aplasia/Hypoplasia of the fibula, Hip contracture, Knee flexion contra... OMIM:259780
Acrocallosal Syndrome
Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid distal phalanx of the thumb... OMIM:200990
Acrocephalopolydactyly
Short nose, Genu recurvatum, Short long bone, Depressed nasal ridge, Limb undergrowth, Brachydactyly ORPHA:221054
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Orofacial cleft, Microphthalmia, Aplasia/Hypopl... ORPHA:3186
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Glossoptosis, Micromelia, Dumbbell-shaped long bone, Micrognathia, Me... ORPHA:440354
Warburg Micro Syndrome 3
Hypoplasia of the corpus callosum, Secondary microcephaly, Narrow palate, Short nose, Clinodactyl... OMIM:614222
Trisomy 12P
Short nose, Clinodactyly of the 5th finger, Everted lower lip vermilion, Anal atresia, Aplasia/Hy... ORPHA:1699
Melanocytic Nevus Syndrome, Congenital
Short nose, Narrow nasal ridge, Anteverted nares, Everted lower lip vermilion, Broad nasal tip, O... OMIM:137550
Fucosidosis
Cerebral atrophy, Spastic gait, Thick lower lip vermilion, Absent/hypoplastic paranasal sinuses, ... OMIM:230000
Tarp Syndrome
Rocker bottom foot, Glossoptosis, Abnormal duodenum morphology, Intrauterine growth retardation, ... ORPHA:2886
Adams-Oliver Syndrome 4
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... OMIM:615297
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Short philtrum, Wide nose, High palate, Micrognathia, Clinodactyly,... ORPHA:254531
Kleefstra Syndrome
Short nose, Advanced eruption of teeth, Delayed eruption of teeth, Anteverted nares, Mandibular p... ORPHA:261494
Schilbach-Rott Syndrome
Long nose, 2-3 toe cutaneous syndactyly, Narrow mouth, Prominent nose, Microcephaly, Short statur... OMIM:164220
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Long nose, Short nose, Short philtrum, Delayed eruption of teeth, Low hanging co... OMIM:615866
Orofaciodigital Syndrome Iv
Cerebral atrophy, Short finger, Hamartoma of tongue, Tongue nodules, Porencephalic cyst, High pal... OMIM:258860
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Short nose, Anteverted nares, Micrognathia, Ulnar deviation of... OMIM:618577
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Hypertension, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria... OMIM:105200
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Flexion contracture of toe, Dental crowding, Wrist flexion contracture, Micro... OMIM:193700
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Kleefstra Syndrome Due To 9Q34 Microdeletion
Short nose, Anteverted nares, Subcortical cerebral atrophy, Everted lower lip vermilion, Protrudi... ORPHA:96147
Intellectual Developmental Disorder, X-Linked 30
Short nose, Anteverted nares, Prominent fingertip pads, High palate, Microcephaly, Short stature,... OMIM:300558
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou... ORPHA:100024
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Retrognathia, Microphthalmia, Macrocephaly, Short philtrum, Joint contracture of the 5th finger, ... OMIM:620098
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Supernumerary tooth, Calcinosis, Metaphyseal striations, Delayed eruption... ORPHA:2909
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Dental crowding, Clubbing, Macroglossia, Hip dislocation OMIM:618523
Chromosome 3Q29 Duplication Syndrome
Short nose, Macrocephaly, Abnormally large globe, Multiple palmar creases, Microcephaly, Obesity,... OMIM:611936
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Ragged-red muscle fibers, High palate, Increased muscle lipid ... ORPHA:254864
Restrictive Dermopathy 2
Rectal prolapse, Short clavicles, Overtubulated long bones, Hypoplastic facial bones, Microretrog... OMIM:619793
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Esophageal atresia, Cleft soft palate, Facial hypotonia, Broad thumb, Micrognathi... OMIM:614526
Tenorio Syndrome
Macrocephaly, Recurrent aphthous stomatitis, Wide nose, Cavum septum pellucidum, Anteverted nares... OMIM:616260
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Tip-toe gait, Muscular dystrophy, Difficulty walking, Calf muscle hypertrophy, Waddling gait, Ach... OMIM:607155
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormal palate morphology, Short nose, Bilateral single transverse palmar creases... ORPHA:1786
Split-Hand/Foot Malformation 3
Narrow mouth, Split hand, Camptodactyly, High palate, Hypoplasia of the maxilla, Cleft palate, Mi... OMIM:246560
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Abnormal thumb morphology, Microphthalmia, Aganglionic megacolon, Radial ... ORPHA:959
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Al-Raqad Syndrome
Short nose, Inability to walk, Sandal gap, Narrow mouth, Gait ataxia, Microcephaly, Brachydactyly... OMIM:616459
Meier-Gorlin Syndrome 5
Slender long bone, Birth length less than 3rd percentile, Intrauterine growth retardation, Hypopl... OMIM:613805
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Cachexia, Athetosis, Microcephaly, Short stature, Ataxia, Malar flattening... ORPHA:52503
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite OMIM:119540
Sialuria
Macrocephaly, 2-3 toe syndactyly, High palate, Long hallux, Smooth philtrum, Long philtrum, Macro... OMIM:269921
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Hepatomegaly, Abnormal lymph node morphology, Anemia, Petechiae, Leukocytosis,... OMIM:612840
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dislocated radial head, Short metacarpal, Broad femoral neck, Bifid uvula, Moderately short statu... OMIM:612350
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Disproportionate short-limb short stature, Waddling gait, Short stature,... ORPHA:156728
Adams-Oliver Syndrome 2
Cerebral atrophy, Microphthalmia, Macrocephaly, Limb hypertonia, Polymicrogyria, Single transvers... OMIM:614219
Cohen Syndrome
Delayed puberty, Microphthalmia, Abnormal hip bone morphology, Sandal gap, Tooth agenesis, Microc... ORPHA:193
Distal Duplication 18Q
Bilateral single transverse palmar creases, Short nose, Clinodactyly of the 5th finger, Anteverte... ORPHA:1716
Pfeiffer Syndrome
Short nose, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Fing... OMIM:101600
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Inability to walk, 2-3 toe syndactyly, Facial diplegia, High palate, Limb muscle weak... OMIM:218000
Smith-Magenis Syndrome
Delayed puberty, Microcephaly, Delayed eruption of primary teeth, Taurodontia, Short philtrum, An... ORPHA:819
Cutis Laxa, Autosomal Recessive, Type Iia
Short nose, Excessive wrinkled skin, Dandy-Walker malformation, Polymicrogyria, Wide anterior fon... OMIM:219200
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Disproportionate short-limb short stature, Metaphyseal cupping, Bowin... ORPHA:85166
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Hypoplasi... OMIM:615771
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Thin vermilion border, Short nose, Erythema, Anteverted nares,... OMIM:610015
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Short nose, Macrocephaly, Intestinal polyposis, Wide nose, Cachexia, Anteverted na... ORPHA:109
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Va... OMIM:308240
Osteoglophonic Dysplasia
Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Severe short stature, Long phi... OMIM:166250
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Delayed eruption of teeth, Decreased fibular diameter, Arachnodacty... OMIM:619489
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Prolonged prothrombin time, Cirrhosis, Hepatomegaly, ... OMIM:276700
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Bone marrow hypocellularity, Abnormal heart morphology, Leukopenia, Optic atroph... ORPHA:505248
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Muscular dystrophy, Microphthalmia, Buphthalmos, Skeletal muscle hypertrophy, Type II lissencepha... OMIM:613150
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Acquired Partial Lipodystrophy
Glomerulopathy, Lymphocytosis, Microscopic hematuria, Proteinuria, Hepatic steatosis ORPHA:79087
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Microphthalmia, Megalencephaly, Cavum septum pellucidum, Polymicrogyria, Cutis marmo... OMIM:602501
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Vasculitis, Vasculitis in the ski... OMIM:617718
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Abnormality of retinal pigmentation, Th... ORPHA:858
Stickler Syndrome
Cachexia, Glossoptosis, Tooth agenesis, Arachnodactyly, Bifid uvula, Long philtrum, Abnormal epip... ORPHA:828
Radial Ray Hypoplasia With Choanal Atresia
Hypoplasia of the radius, Choanal atresia, Distally placed thumb, Short thumb, Choanal stenosis, ... OMIM:179270
Down Syndrome
Bilateral single transverse palmar creases, Delayed puberty, Sandal gap, Microdontia, Narrow pala... ORPHA:870
Xfe Progeroid Syndrome
Pes cavus, Cutaneous photosensitivity, Prematurely aged appearance, Cachexia, Premature loss of t... OMIM:610965
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro... OMIM:314050
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macrocephaly, Polymicrogyria, Bilateral cleft palate, Bifid nasal tip, High palate, Unilateral mi... OMIM:618874
Myoclonic-Astatic Epilepsy
Microphthalmia, Thick lower lip vermilion, Premature skin wrinkling, Anteverted nares, Thick nasa... ORPHA:1942
Roberts Syndrome
Bilateral single transverse palmar creases, Microphthalmia, Radial deviation of finger, Mesomelic... ORPHA:3103
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular leukomalacia, Pes cavus, Thin corpus callosum, Short nose, Hammertoe, Exaggerated... OMIM:619833
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Burn-Mckeown Syndrome
Abnormal palate morphology, Short nose, Bilateral choanal atresia, Short stature, Prominent nasal... ORPHA:1200
Rhiny
Thin vermilion border, Short nose, Anteverted nares OMIM:180360
Spastic Paraplegia 16, X-Linked
Facial hypotonia, Lower limb amyotrophy, Shuffling gait, Hypoplasia of the maxilla, Short distal ... OMIM:300266
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Retrognathia, Short nose, High palate, Microcephaly, Failure to thrive, Short stature, Joint cont... OMIM:618005
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cerebral calcification, Cachexia, Microcephaly, Short stature, Ataxia, Skeletal muscle atrophy ORPHA:1933
Distal Xq28 Microduplication Syndrome
Tip-toe gait, Thick lower lip vermilion, Dental crowding, Short lingual frenulum, High palate, Me... ORPHA:293939
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Delayed ossification of carpal bones, Abnormal rectum morphology, Short distal phalanx of finger,... OMIM:239300
Gm1 Gangliosidosis Type 1
Long philtrum, Acetabular dysplasia, Broad long bone diaphyses, Gingival overgrowth, Short long b... ORPHA:79255
Baraitser-Winter Syndrome 2
Secondary microcephaly, Retrognathia, Orofacial cleft, Microphthalmia, Short stature, Wide mouth,... OMIM:614583
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microphthalmia, Median cleft palate ORPHA:2432
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex... OMIM:256550
Fanconi Anemia
Microphthalmia, Abnormal femur morphology, Meckel diverticulum, Abnormality of the upper limb, Tr... ORPHA:84
Hurler Syndrome
Diaphyseal undertubulation, Macrocephaly, Short clavicles, Gingival overgrowth, Anteverted nares,... OMIM:607014
Tetrasomy 18P
Thin vermilion border, Short nose, Narrow mouth, Gait disturbance, Microcephaly, Large hands, Lon... ORPHA:3307
Intellectual Developmental Disorder, Autosomal Recessive 5
Postnatal growth retardation, Pes cavus, Short philtrum, Broad-based gait, 4-5 toe syndactyly, Mi... OMIM:611091
Bartsocas-Papas Syndrome
Short nose, Talipes, Finger syndactyly, Underdeveloped nasal alae, Narrow mouth, Microcephaly, Ap... ORPHA:1234
Al Kaissi Syndrome
Microcephaly, Intrauterine growth retardation, Long philtrum, Clinodactyly, Deep palmar crease, B... OMIM:617694
Severe X-Linked Intellectual Disability, Gustavson Type
Rocker bottom foot, Equinovarus deformity, Short nose, Triphalangeal thumb, Severe postnatal grow... ORPHA:3078
Cleidocranial Dysplasia 2
Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossif... OMIM:620099
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis, Diffuse palmoplantar hyperkeratosis ORPHA:86918
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Weight loss, Gait ataxia OMIM:612075
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Mandibular prognathia, Micromelia ORPHA:2252
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Hypoplastic pubic bone, Miscarriage, Short ribs, Narrow mouth, Short long bo... ORPHA:1865
Schwartz-Jampel Syndrome, Type 1
Flexion contracture of toe, Wrist flexion contracture, Quadriceps muscle weakness, Anterior bowin... OMIM:255800
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Anencephaly, Microcephaly, Left ventricular hypertrophy, Overlapping toe, Advance... OMIM:619148
Pitt-Hopkins Syndrome
Narrow foot, Gait ataxia, Microcephaly, Wide mouth, Ataxia, Aganglionic megacolon, Short philtrum... ORPHA:2896
Acrorenal Syndrome
Abnormal tibia morphology, Split hand, Micrognathia, Abnormal morphology of ulna, Cleft palate, A... ORPHA:971
Cronkhite-Canada Syndrome
Macrocephaly, Intestinal polyposis, Stomach cancer, Cachexia, Furrowed tongue, Hamartomatous poly... ORPHA:2930
Pycnodysostosis
Cerebral dysmyelination, Disproportionate short-limb short stature, Hypoplastic iliac wing, Acrom... ORPHA:763
Potocki-Shaffer Syndrome
Short nose, Short philtrum, Single transverse palmar crease, Downturned corners of mouth, 2-5 fin... OMIM:601224
Desmosterolosis
Retrognathia, Microcephaly, Intestinal malrotation, Bifid uvula, Severe short stature, Intrauteri... ORPHA:35107
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... OMIM:306955
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Dispro... ORPHA:93351
Oculopharyngodistal Myopathy
Abnormality of orbicularis oris muscle, Proximal muscle weakness in upper limbs, Distal lower lim... ORPHA:98897
Baker-Gordon Syndrome
Short nose, Abnormal foot morphology, Inability to walk, Prominent nasal tip, Ataxia, Smooth phil... OMIM:618218
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Hypoplasia of the corpus callosum, High, narrow palate, Macrocephaly, Clinodactyly of the 5th fin... ORPHA:369950
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short nose, Death in childhood, Anteverted nares, Short ribs, Short long bone, Metaphyseal wideni... OMIM:618961
Cardioacrofacial Dysplasia 2
Genu valgum, Clinodactyly of the 5th finger, Short philtrum, Conical tooth, Mandibular prognathia... OMIM:619143
Nance-Horan Syndrome
Supernumerary tooth, Microphthalmia, Mandibular prognathia, Abnormality of the dentition, Short m... ORPHA:627
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... OMIM:232220
5Q14.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Short nose, Short philtrum, Optic nerve hypoplasia, Frontal co... ORPHA:228384
Athyreosis
Growth delay, Macroglossia, Short stature ORPHA:95713
Facial Paresis, Hereditary Congenital, 3
Short nose, Short philtrum, Anteverted nares, High palate, Facial palsy, Downturned corners of mo... OMIM:614744
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Retinopathy Of Prematurity
Vitreous hemorrhage, Tractional retinal detachment ORPHA:90050
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Postnatal growth retardation, Short nose, Abnormally large globe, Progressive microcephaly, Optic... OMIM:300749
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Short nasal septum, Epiphyseal stippling, Anosmia, Microcephaly, Short stature, Short... OMIM:302950
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Secondary microcephaly, Postnatal growth retardation, Broad secondary alveolar ridge, High palate... ORPHA:3369
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Broad distal phalanx of finger, Anteverted nares, 2-3 toe syndactyly, Lower limb ... ORPHA:404440
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
U-Shaped upper lip vermilion, Aganglionic megacolon, Clinodactyly of the 5th finger, Thick lower ... ORPHA:847
16P12.1P12.3 Triplication Syndrome
Retrognathia, Thin vermilion border, High, narrow palate, Short nose, 2-3 toe syndactyly, Promine... ORPHA:485405
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Abnormal epiphysis morpholo... ORPHA:931
Spinocerebellar Ataxia 48
Cachexia, Ataxia, Dysmetria, Gait ataxia OMIM:618093
Monosomy 18P
Microphthalmia, Short philtrum, Tooth malposition, Microcephaly, Carious teeth, Micrognathia, Cle... ORPHA:1598
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Distal Deletion 17Q
Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormal metacarpal morpho... ORPHA:1597
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Premature Aging Syndrome, Penttinen Type
Retrognathia, Microphthalmia, Tibial bowing, Aplasia of the nasal bone, Flexion contracture of fi... OMIM:601812
Rabson-Mendenhall Syndrome
Polydactyly, Premature graying of hair, Advanced eruption of teeth, Wide nose, Severe postnatal g... ORPHA:769
Meier-Gorlin Syndrome 4
Thick lower lip vermilion, Slender long bone, Genu recurvatum, Narrow mouth, Hypoplasia of the ma... OMIM:613804
Oculodentodigital Dysplasia
Microphthalmia, Joint contracture of the 5th finger, Broad alveolar ridges, Microdontia, Microcep... OMIM:164200
Schinzel-Giedion Midface Retraction Syndrome
Tibial bowing, Abnormal nasopharynx morphology, Short distal phalanx of finger, Increased density... OMIM:269150
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Mandibular prognathia, Decreased body weight, Hypoplasia of the maxilla, Short st... ORPHA:93945
Distal Deletion 10Q
Inferior cerebellar vermis hypoplasia, Sandal gap, Prominent fingertip pads, Facial diplegia, Mic... ORPHA:96148
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebral atrophy, Hypoplasia of the corpus callosum, Global brain atrophy, Ankle flexion contract... OMIM:617802
Wild Type Abeta2M Amyloidosis
Abnormality of the thenar eminence, Abnormal shoulder morphology, Intestinal pseudo-obstruction, ... ORPHA:85446
Congenital Generalized Lipodystrophy
Long foot, Skeletal muscle hypertrophy, Mandibular prognathia, Failure to thrive, Large hands, Ma... ORPHA:528
Chondrodysplasia, Blomstrand Type
Stillbirth, Flared metaphysis, Short ribs, Micromelia, Micrognathia, Advanced tarsal ossification... OMIM:215045
Trichohepatoneurodevelopmental Syndrome
Steatorrhea, Thin corpus callosum, Dental crowding, Microdontia, Microcephaly, Wide mouth, Overla... OMIM:618268
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Flat acetabular roof, Limited knee extension, Long philtrum, Ante... OMIM:618870
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, Single transverse palmar c... OMIM:617412
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypoplasia of the corpus callosum, Short nose, Microphthalmia, Thin corpus callosum, Short philtr... OMIM:614105
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Ohdo Syndrome
Thin vermilion border, Short nose, Widely spaced teeth, Clinodactyly of the 5th finger, Abnormal ... OMIM:249620
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Thin vermilion border, Abnormal palate morphology, Thick lower lip vermilion, Short nose, Antever... ORPHA:2701
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Limited elbow extension, Short nose, Carpal bone hypoplasia, Small epiphyses, Femoral bowing, Sho... OMIM:616723
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl... OMIM:616217
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Proximal placement of thumb, Miscarriage, Anal atresia, Death in infanc... OMIM:613390
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Progressive microcephaly, Thick cerebral cortex, Long philtrum, Intrauterine growth retardation, ... ORPHA:357074
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Prolonged neonatal jaundice, Abnormal epiphysis... ORPHA:95716
Dyssegmental Dysplasia, Silverman-Handmaker Type
Disproportionate short-limb short stature, Short long bone, Narrow mouth, Bowing of the long bone... OMIM:224410
Aminopterin/Methotrexate Embryofetopathy
Talipes, Anencephaly, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Non-midline cleft of th... ORPHA:1908
Riboflavin Transporter Deficiency
Cachexia, Facial palsy, Limb muscle weakness, Cerebral cortical atrophy, Ataxia, Skeletal muscle ... ORPHA:97229
Mucopolysaccharidosis, Type Vii
Narrow greater sciatic notch, Postnatal growth retardation, Macrocephaly, Genu valgum, Widely spa... OMIM:253220
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Secondary microcephaly, Short nose, Abnormality of the hand, Clinodactyly of the 5th finger, Prim... ORPHA:476126
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Radial deviation of finger, Severe intrauterine growth retardation, Wrist flexion... OMIM:268300
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Arthrogryposis, Distal, Type 3
Knee flexion contracture, Single transverse palmar crease, Ulnar deviation of the hand or of fing... OMIM:114300
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Raine Syndrome
Cerebral calcification, Microdontia, Death in infancy, Microcephaly, Wide mouth, Choanal atresia,... OMIM:259775
Mandibulofacial Dysostosis-Microcephaly Syndrome
Secondary microcephaly, Short nose, Hypoplasia of the maxilla, Short stature, Micrognathia, Cleft... ORPHA:79113
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Optic nerve hypoplasia, Abnormality of primary teeth, Tooth agenes... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Optic nerve hypoplasia, Abnormality of primary teeth, Tooth agenes... ORPHA:352665
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, Sandal gap, Anteverted nares, High palate, Micromelia, Short stature, Arachnodactyly... ORPHA:1035
Marshall-Smith Syndrome
Retrognathia, Short nose, Slender long bone, Anteverted nares, Gingival overgrowth, Bowing of the... ORPHA:561
Craniofaciofrontodigital Syndrome
Large for gestational age, Premature skin wrinkling, Gingival overgrowth, Prominent median palata... ORPHA:363705
Orofaciodigital Syndrome Type 4
Retrognathia, Microcephaly, Abnormal oral frenulum morphology, Bifid uvula, Severe short stature,... ORPHA:2753
8Q22.1 Microdeletion Syndrome
Abnormal nostril morphology, Sandal gap, Finger syndactyly, Abnormality of the dentition, Depress... ORPHA:178303
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata... OMIM:259600
Achondrogenesis, Type Ia
Hypoplastic sacrum, Abnormal hand bone ossification, Short ribs, Hypoplastic ischia, Hypoplasia o... OMIM:200600
Temtamy Syndrome
Microphthalmia, Dental crowding, Short 2nd toe, Hypoplasia of teeth, Micrognathia, Brachydactyly,... OMIM:218340
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Microphthalmia, Microcephaly, Failure to thrive, Growth delay, Agenesis of corp... OMIM:274270
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ... ORPHA:85451
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy, Talipes eq... OMIM:151800
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp... OMIM:261740
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Postnatal growth retardation, Recurrent mandibular subluxations, Gingival hyperkeratosis, Gingiva... OMIM:225410
Bresek Syndrome
Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia, Postaxial hand polydactyly, Microc... ORPHA:85284
Bainbridge-Ropers Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Retrognathia, Inferior cereb... OMIM:615485
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Thin vermilion border, Short nose, Proximal placement of thumb, ... ORPHA:251071
Orofaciodigital Syndrome Ix
Bifid nasal tip, High palate, Abnormality of the dentition, Camptodactyly, Microcephaly, Short st... OMIM:258865
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Elbow disl... ORPHA:56305
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Abnormal bleeding, Gastrointestinal hemorrhage, Biliary tract ... ORPHA:79301
Mucopolysaccharidosis, Type Ii
Pes cavus, Thick lower lip vermilion, Macrocephaly, Widely spaced teeth, Intestinal pseudo-obstru... OMIM:309900
Fibrochondrogenesis 2
Short nose, Metaphyseal cupping, Hypoplastic pubic bone, Anteverted nares, Short ribs, Short long... OMIM:614524
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Retrognathia, Radial deviation of finger, Temporomandibular join... OMIM:154400
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno... OMIM:615559
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria ORPHA:882
Stickler Syndrome Type 1
Short nose, Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology, Hypoplasia of... ORPHA:90653
Peho Syndrome
Hypoplasia of the corpus callosum, Retrognathia, Short nose, Progressive microcephaly, Polymicrog... OMIM:260565
Fetal Trimethadione Syndrome
Bilateral single transverse palmar creases, Short nose, High palate, Microcephaly, Micrognathia, ... ORPHA:1913
Rhizomelic Chondrodysplasia Punctata
Abnormal metaphysis morphology, Rhizomelia, Epiphyseal stippling, Abnormality of the dentition, M... ORPHA:177
Phosphoserine Aminotransferase Deficiency
Secondary microcephaly, Cerebellar vermis hypoplasia, Cyanotic episode, Death in infancy OMIM:610992
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Retrognathia, Short nose, Macrocephaly, Short philtrum, Hypodontia, Narrow mouth, ... OMIM:620250
Codas Syndrome
Short nose, Midline defect of the nose, Delayed eruption of teeth, Abnormal dental enamel morphol... ORPHA:1458
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Microphthalmia, Camptodactyly of finger, Micrognathia, Duodenal stenosis, Symphalangi... ORPHA:2547
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Retrognathia, High, narrow palate, Short nose, Midgut malrotatio... ORPHA:2409
Ulbright-Hodes Syndrome
Short ribs, Severe intrauterine growth retardation, Short metacarpal, Abnormal forearm bone morph... ORPHA:3404
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, High palate, ... OMIM:147891
Roifman Syndrome
Hypoplasia of the corpus callosum, Bilateral single transverse palmar creases, Postnatal growth r... ORPHA:353298
Essential Thrombocythemia
Acute leukemia, Abnormal bleeding, Transient ischemic attack, Leukocytosis, Abnormal platelet mor... ORPHA:3318
Carpenter Syndrome 1
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Coxa valga, Genu varum, Com... OMIM:201000
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the nose, Underdeveloped nasal alae, Abnormality of the dentition, ... ORPHA:1794
Pelizaeus-Merzbacher Disease
Cachexia, Gait disturbance, Microcephaly, Cerebral cortical atrophy, Short stature, Ataxia, Failu... ORPHA:702
Toluene Embryopathy
Thin vermilion border, Short nose, Biparietal narrowing, Microcephaly, Short stature, Micrognathi... ORPHA:1920
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Microcephaly, Ataxia, Thick vermilion border, Long philtrum ORPHA:833
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Abnormal metacarpal morphology, Choanal atresia, Hypoplasia of the ma... ORPHA:93262
Acrodysostosis 1 With Or Without Hormone Resistance
Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Di... OMIM:101800
Nabais Sa-De Vries Syndrome, Type 1
Short nose, Clinodactyly of the 5th finger, Optic nerve hypoplasia, Prolonged neonatal jaundice, ... OMIM:618828
Intellectual Disability-Strabismus Syndrome
Rocker bottom foot, Congenital diaphragmatic hernia, Narrow nasal ridge, Congenital finger flexio... ORPHA:363528
Even-Plus Syndrome
Dysplastic corpus callosum, Short nose, Bifid nasal tip, High palate, Anal atresia, Depressed nas... OMIM:616854
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Short nose, Inability to walk, Limb hypertonia, Mandibular prognathia, Microcephaly, Ataxia, Synd... OMIM:618087
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Disproportionate short-limb short stature, Triangular shaped distal phalanges of the hand, Calcif... OMIM:271665
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Antenatal ... OMIM:608836
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L... OMIM:603909
Congenital Disorder Of Glycosylation, Type Iie
Retrognathia, Progressive microcephaly, Death in infancy, Intrauterine growth retardation, Adduct... OMIM:608779
Thalidomide Embryopathy
Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han... ORPHA:3312
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Microphthalmia, Delayed eruption of teeth, Periodont... ORPHA:2791
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Pes cavus, Tal... ORPHA:79243
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Cleft ala nasi, Anophthalmia, Dandy-Walker mal... OMIM:164180
Van Maldergem Syndrome 1
Subcortical band heterotopia, Clinodactyly, Short 4th metacarpal, Camptodactyly, Short fourth met... OMIM:601390
Familial Atrial Myxoma
Congestive heart failure, Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites,... ORPHA:615
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Clinodactyly of the 5th finger, 11 pairs of ribs, Sandal gap, Anterior open-bite malo... OMIM:617877
Acrocapitofemoral Dysplasia
Macrocephaly, Flared iliac wing, Micromelia, Abnormal femoral neck morphology, Short palm, Cone-s... ORPHA:63446
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Cerebral atrophy, Short nose, Facial hypotonia, Dental crowding, High palate, Narrow mouth, Campt... OMIM:615539
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Neonatal short-limb short stature, Stillbirth, Macrocephaly, Rhizomelia, Severe limb shortening, ... OMIM:151210
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Loeys-Dietz Syndrome 5
Retrognathia, Flexion contracture of toe, Congenital finger flexion contractures, Arachnodactyly,... OMIM:615582
Hemochromatosis, Type 2B
Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Splenomegaly, Hepatic ... OMIM:613313
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Arrhythmia, Atrioventricular block, Neph... ORPHA:85447
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebral atrophy, Hypoplasia of the corpus callosum, High, narrow palate, Microphthalmia, Inabili... OMIM:618494
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Mucopolysaccharidosis, Type Iiid
Pes cavus, Macrocephaly, Thick lower lip vermilion, Difficulty walking, Broad alveolar ridges, An... OMIM:252940
Congenital Macroglossia
Macroglossia ORPHA:2430
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Hypertrichosis Cubiti
Rhizomelia, Micromelia, Microcephaly, Prominent nasal bridge, Severe short stature, Abnormality o... ORPHA:2220
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease, Cleft upper lip, Cleft palate, Tessier number 4 facial cleft,... OMIM:600251
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Coronary sinus enlargement, Dysplastic tricuspid valve, Accessory sp... OMIM:618280
Desbuquois Dysplasia 2
Dental crowding, Relative macrocephaly, Short long bone, Short metacarpal, Flat acetabular roof, ... OMIM:615777
Tetraploidy
Radial club hand, Short philtrum, Biparietal narrowing, Microcephaly, Aplasia/Hypoplasia affectin... ORPHA:3305
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin... OMIM:121300
Intellectual Developmental Disorder, Autosomal Dominant 73
Bilateral single transverse palmar creases, Retrognathia, Long nose, Everted lower lip vermilion,... OMIM:620450
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Proximal placement of thumb, Esophageal atresia, Progressive microcephaly, Anteverted... OMIM:610536
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Retrognathia, Sandal gap, Dental crowding, Microcephaly, Long philtrum, Short philtrum, Oligodont... OMIM:617061
Hypochondroplasia
Abnormal metaphysis morphology, Childhood onset short-limb short stature, Abnormal femur morpholo... ORPHA:429
Macroglossia
Macroglossia OMIM:153630
Fetal Cytomegalovirus Syndrome
Optic atrophy, Jaundice, Anemia, Hepatomegaly, Petechiae, Retinal hemorrhage, Thrombocytopenia, S... ORPHA:294
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Microphthalmia, Everted lower lip vermilion, Microcephaly, Contracture of the proxi... ORPHA:464738
Mucopolysaccharidosis, Type Vi
Genu valgum, Macrocephaly, Delayed eruption of teeth, Hypoplastic iliac wing, Hypoplastic acetabu... OMIM:253200
ERI1-related disease
Dislocated radial head, Oligodactyly, Slender metacarpals, Syndactyly, Intrauterine growth retard... OMIM:608739
Rhombencephalosynapsis
Polydactyly, Short nose, Macrocephaly, Aganglionic megacolon, Esophageal atresia, Finger syndacty... ORPHA:59315
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Proximal placement of thumb, Wide anterior fontanel, Anteverted nares, Microcephaly, ... OMIM:217980
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Abnormality of the hand, Abnormal femur morphology, Rhizomelia, Abnorm... ORPHA:1842
Marshall Syndrome
Short nose, Genu valgum, Thick lower lip vermilion, Cerebral calcification, Anteverted nares, Hig... ORPHA:560
Dpm1-Cdg
Cerebral atrophy, Secondary microcephaly, Muscular dystrophy, High, narrow palate, Sandal gap, Ca... ORPHA:79322
Classic Glucose Transporter Type 1 Deficiency Syndrome
Progressive microcephaly, Choreoathetosis, Ataxia, Cyanosis ORPHA:71277
Microcephaly 30, Primary, Autosomal Recessive
Clinodactyly of the 5th finger, Cleft soft palate, Cerebral cortical atrophy, Pierre-Robin sequen... OMIM:620183
Pontocerebellar Hypoplasia, Type 2E
Cerebral atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Short nose, Wide nos... OMIM:615851
Baller-Gerold Syndrome
Short nose, Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the... ORPHA:1225
Developmental And Epileptic Encephalopathy 112
Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Macroglossia OMIM:620537
Diabetes Insipidus, Neurohypophyseal
Long philtrum, Short nose, Wide nose OMIM:125700
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Gingival bleeding, Retinal hemorrhage, Bone marrow hypoc... ORPHA:88
Momo Syndrome
Large for gestational age, Long foot, Macrocephaly, Thick lower lip vermilion, Wide nasal base, B... ORPHA:2563
2Q31.1 Microdeletion Syndrome
Microphthalmia, Sandal gap, Everted lower lip vermilion, Microcephaly, Long philtrum, Abnormal fi... ORPHA:251014
Acrofrontofacionasal Dysostosis
Non-midline cleft of the upper lip, Dimple on nasal tip, High palate, Everted lower lip vermilion... ORPHA:1784
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Everted lower lip vermilion, Short philtrum, 4-5 toe syndactyly, Broad nasal tip, Bulbous nose, T... ORPHA:3041
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Bradycardia, Reticulocytosis, Pericarditis, Leukopenia, Lymphopenia, ... ORPHA:99826
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Long nose, Sandal gap, Dental crowding, Intestinal malrotation, ... OMIM:617602
4Q21 Microdeletion Syndrome
Thin vermilion border, Short philtrum, Abnormality of the dentition, Micromelia, Growth delay, Sh... ORPHA:238750
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Disproportionate short-limb short stature, Delayed ossification of carpal bones, Relative macroce... OMIM:271510
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Gastrointestinal hemorrhage, Hypertension, Cholestasis, Ascites, Biliary hyperpl... ORPHA:731
Joubert Syndrome 1
Macrocephaly, Cerebellar vermis hypoplasia, Anteverted nares, Postaxial hand polydactyly, Protrud... OMIM:213300
Acute Myelomonocytic Leukemia
Abnormal bleeding, Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia ORPHA:517
Meacham Syndrome
Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmo... OMIM:608978
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Bicuspid aortic valve, Atrioventricular... ORPHA:3092
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Peg-shaped maxillary lateral incisors, Palat... ORPHA:199306
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria OMIM:230350
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypoplasia of the corpus callosum, Talipes, Oligodontia, High palate, Furrowed tongue, Microcepha... ORPHA:453499
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Microphthalmia, Widely spaced teeth, Sandal gap, Short philtrum,... OMIM:612530
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short nose, Decreased adipose tissue around neck, Death in early adulthood, Dental crowding, Prem... OMIM:608612
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Micro Syndrome
Delayed puberty, Short nose, Microphthalmia, Short philtrum, Cerebellar vermis hypoplasia, Anteve... ORPHA:2510
Distal 22Q11.2 Microduplication Syndrome
Macrocephaly, Short philtrum, Wide nose, Mandibular prognathia, High palate, Biparietal narrowing... ORPHA:261337
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Lissencephaly 7 With Cerebellar Hypoplasia
Agyria, Death in infancy, Microcephaly, Hand clenching, Micrognathia, Downturned corners of mouth... OMIM:616342
Mosaic Trisomy 1
Rocker bottom foot, Congenital diaphragmatic hernia, Microphthalmia, Broad 2nd toe, Arachnodactyl... ORPHA:1692
Metaphyseal Anadysplasia 2
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... OMIM:613073
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Macrocephaly, Wide anterior fontanel, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth,... OMIM:601356
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Disproportionate short-limb short stature, Hypoplastic iliac wing, Short long bone, Short metacar... OMIM:611717
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Secondary microcephaly, Retrognathia, Thin vermilion border, Death in childhood, Dandy-Walker mal... OMIM:612938
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Harel-Yoon Syndrome
Short nose, Inability to walk, Mandibular prognathia, Distal amyotrophy, Micrognathia, Ataxia, Hi... OMIM:617183
Fetal Hydantoin Syndrome
Short nose, Triphalangeal thumb, Everted lower lip vermilion, Depressed nasal ridge, Microcephaly... ORPHA:1912
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Thick lower lip vermilion, Anteverted nares, Long hallux, Obesity, Tented upper lip v... OMIM:619854
Roifman Syndrome
Postnatal growth retardation, Clinodactyly of the 5th finger, Anteverted nares, Underdeveloped na... OMIM:616651
Craniometadiaphyseal Dysplasia
Genu valgum, Megalencephaly, Macrocephaly, Abnormally large globe, Flared metaphysis, Cubitus val... OMIM:269300
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Hypoplastic iliac wing, Tibial bowing, Microdontia, Microcephaly, Short distal phal... OMIM:210720
3Q29 Microduplication Syndrome
Microphthalmia, Macrocephaly, Aniridia, Sandal gap, Ectopic anus, High palate, Abnormality of the... ORPHA:251038
Ulnar-Mammary Syndrome
Delayed puberty, Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd ... OMIM:181450
Hurler Syndrome
Abnormal diaphysis morphology, Abnormality of the elbow, Anteverted nares, Everted lower lip verm... ORPHA:93473
Sea-Blue Histiocytosis
Abnormal bleeding, Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Petechiae, ... ORPHA:158029
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Death in infancy, Broad thumb, Wide mouth, Dandy-Walker malforma... ORPHA:373
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Desmosterolosis
Short nose, Macrocephaly, Rhizomelia, Gingival fibromatosis, Anteverted nares, Relative macroceph... OMIM:602398
Craniodigital-Intellectual Disability Syndrome
Short nose, Narrow nasal bridge, Finger syndactyly, Short stature, Micrognathia ORPHA:1514
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Wide nasal base, Proximal placement of thumb, Microcephaly, Abno... ORPHA:94065
Joubert Syndrome 37
Hypoplasia of the corpus callosum, Microphthalmia, Wide nose, Cerebellar vermis hypoplasia, Antev... OMIM:619185
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Wide nasal base, Femoral bowing, Clubbing, Tibial bowing, Short long ... OMIM:601559
14Q24.1Q24.3 Microdeletion Syndrome
Short nose, Dislocated radial head, Limited elbow extension and supination, Intestinal malrotatio... ORPHA:401935
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Aplasia of the 1st metacarpa... OMIM:142900
Acromesomelic Dysplasia 1
Limited elbow extension, Hypoplasia of the radius, Broad finger, Short nose, Short metatarsal, Di... OMIM:602875
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:79312
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Juvenile Amyotrophic Lateral Sclerosis
Tip-toe gait, Difficulty walking, Inability to walk, Retrocollis, Lower-limb joint contracture, C... ORPHA:300605
Wiedemann-Steiner Syndrome
Microcephaly, Contracture of the distal interphalangeal joint of the fingers, Long philtrum, Shor... OMIM:605130
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Flat acetabular roof, Bowing of the long bones, Missing ribs, Mic... ORPHA:1801
Huntington Disease-Like 2
Gait disturbance, Cerebral cortical atrophy, Weight loss, Abnormal cerebral morphology, Abnormal ... ORPHA:98934
Frontofacionasal Dysplasia
Hypoplasia of the corpus callosum, Tessier cleft, Short nose, Microphthalmia, Non-midline cleft o... ORPHA:1791
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Long nose, Macrocephaly, Short philtrum, Narrow nasal bridge, Hyperextensibility of the finger jo... OMIM:309520
Primary Myelofibrosis
Abnormal bleeding, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Petechiae... ORPHA:824
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
3Q29 Microdeletion Syndrome
Orofacial cleft, Short nose, Macrocephaly, Clinodactyly of the 5th finger, Microphthalmia, Short ... ORPHA:65286
Cerebrooculonasal Syndrome
Solitary median maxillary central incisor, Optic nerve hypoplasia, Broad philtrum, Long philtrum,... OMIM:605627
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Spastic gait, Short nose, Delayed puberty, Lower limb amyotrophy, Optic nerve hypoplasia, Mandibu... ORPHA:496790
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, High palate, Choanal atresia, Tooth agenesis, Cleft palate, Abnormality of the se... ORPHA:1135
Nicolaides-Baraitser Syndrome
Broad distal phalanx of finger, Wide nasal base, Sandal gap, Broad 2nd toe, Short metacarpal, Eve... OMIM:601358
Waardenburg Syndrome Type 3
Narrow nasal bridge, Abnormal finger morphology, Abnormality of the upper limb, Synostosis of car... ORPHA:896
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Retrognathia, High, narrow palate, Macrocephaly, Delayed eruption... ORPHA:2780
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Jaberi-Elahi Syndrome
Globus pallidus hypointensity on susceptibility-weighted imaging, Hypoplasia of the corpus callos... OMIM:617988
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypoplasia of the corpus callosum, Short nose, Inability to walk, Cavum septum pellucidum, Cerebe... OMIM:619383
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Short stature, Bifid uvula, Submucous cleft hard palate, Finger joint hyperm... OMIM:601492
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Radial deviation of finger, Hypoplastic philtrum, Microcephaly, Lower limb hypertonia, Wide mouth... OMIM:309580
Gomez-Lopez-Hernandez Syndrome
Thin vermilion border, Short nose, Cerebellar vermis hypoplasia, Wide anterior fontanel, Antevert... OMIM:601853
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Midline defect of the nose, Finger syndactyly, Cachexia, Short hard palate, Anteverted nares, Sho... ORPHA:1969
Pfeiffer Syndrome Type 2
Short nose, Deviation of the thumb, Short hallux, Finger syndactyly, High palate, Choanal atresia... ORPHA:93259
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Short nose, Hypoplastic ischia, Microcephaly, Intrauterine growth retardation, Depre... OMIM:616910
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath... OMIM:616367
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Short finger, Rhizomelia, Irregular epiphyses, Mandibular prognathia, Relative macrocephaly, Broa... OMIM:612813
3Mc Syndrome 2
Postnatal growth retardation, Limited elbow movement, Caudal appendage, Torticollis, Hypoplasia o... OMIM:265050
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypoplasia of the corpus callosum, Secondary microcephaly, Pes cavus, Short nose, Short stature, ... ORPHA:289266
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, High, narrow palate, Bilateral microphthalmos, Optic nerve hypoplasia, Choanal atr... OMIM:607597
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Halberd-shaped pelvis, Micromelia... ORPHA:2635
Acquired Hypertrichosis Lanuginosa
Glossitis, Macroglossia, Weight loss ORPHA:2221
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Genu valgum, Difficulty walking, G... ORPHA:488627
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... OMIM:211350
Pfeiffer Syndrome Type 1
Short nose, Short hallux, Aplasia/Hypoplasia of the thumb, Finger syndactyly, High palate, Broad ... ORPHA:93258
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Prominent nose, Microgna... ORPHA:453510
Meier-Gorlin Syndrome 6
Delayed puberty, Short nose, Sandal gap, Anteverted nares, Underdeveloped nasal alae, Depressed n... OMIM:616835
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Pallister-Hall Syndrome
Microphthalmia, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda... OMIM:146510
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Vasculitis, Leukocytosis, Splenomegaly ORPHA:37748
Intellectual Developmental Disorder, X-Linked 98
Secondary microcephaly, Thin vermilion border, Long nose, Short nose, Clinodactyly of the 5th fin... OMIM:300912
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy... OMIM:115197
Nijmegen Breakage Syndrome
Retrognathia, Rhabdomyosarcoma, Anal stenosis, Cutaneous photosensitivity, Non-midline cleft of t... ORPHA:647
Intellectual Developmental Disorder, Autosomal Dominant 58
Facial hypotonia, Falls, Dental crowding, Single transverse palmar crease, High palate, Protrudin... OMIM:618106
Thomas Syndrome
Cleft upper lip, Cleft palate, Oligohydramnios ORPHA:3316
Stromme Syndrome
Stillbirth, Preaxial polydactyly, Short columella, Microphthalmia, Cerebellar vermis hypoplasia, ... OMIM:243605
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Subaortic Stenosis-Short Stature Syndrome
Bilateral single transverse palmar creases, Microphthalmia, Anteverted nares, Synostosis of carpa... ORPHA:3191
Erythrocytosis, Familial, 1
Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo... OMIM:133100
Juvenile Polyposis Of Infancy
Midclavicular hypoplasia, Rectal prolapse, Macrocephaly, Protein-losing enteropathy, High, narrow... ORPHA:79076
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Genu valgum, Abnormal metacarpal morphology, Anosmia, Br... ORPHA:1295
Amish Lethal Microcephaly
Cleft soft palate, Limb hypertonia, Cerebellar vermis hypoplasia, Death in infancy, Microcephaly,... ORPHA:99742
Miller-Dieker Lissencephaly Syndrome
Midline brain calcifications, Microcephaly, Intrauterine growth retardation, Polydactyly, Deep pa... OMIM:247200
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Nanophthalmos 2
Microphthalmia OMIM:609549
3C Syndrome
Abnormal hip bone morphology, Death in infancy, Intestinal malrotation, Aplasia/Hypoplasia of the... ORPHA:7
Fetal Valproate Spectrum Disorder
Thin vermilion border, Short nose, Narrow mouth, Depressed nasal ridge, Downturned corners of mou... ORPHA:1906
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Microcephaly, Lower limb hypertonia, Ataxia, Intrauterine growth retardatio... ORPHA:99843
Leptospirosis
Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Hypotension, Retinal hemorrhage, Ce... ORPHA:509
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... OMIM:209950
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Bilateral single transverse palmar creases, Short nose, Microcephaly, Camptodactyly of finger, Mi... ORPHA:2083
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Short nose, Macrocephaly, Clinodactyly of the 5th finger, Sandal gap, Downturned corners of mouth... OMIM:618430
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Short philtrum, Wide nose, Progressive microcep... OMIM:607143
Radio-Renal Syndrome
Hypoplasia of the radius, Retrognathia, High, narrow palate, Micromelia, Short palm, Micrognathia... ORPHA:3015
Coronary Arterial Fistula
Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,... ORPHA:2041
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the hand, Ragged-red muscle fibers, Cachexia, Decreased muscle mass, Abnormal cere... ORPHA:298
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Postnatal growth retardation, Short nose, Macrocephaly, Epiphyseal dysplasia, Metaphyseal dysplas... OMIM:614732
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Microcephaly, Limb undergrowth, Abnormal limb bone morphology, Short stature ORPHA:2204
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia... OMIM:314390
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg... ORPHA:860
Cockayne Syndrome
Delayed puberty, Microphthalmia, Cerebral dysmyelination, Progressive microcephaly, Cerebral calc... ORPHA:191
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Retrognathia, Prominent fingertip pads, Microdontia, Microcephaly, Eclabion, Wide mouth, Ataxia, ... OMIM:619950
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Postnatal growth retardation, Short nose, Anteverted nares, Elbow flexion contracture, Porencepha... OMIM:612394
Developmental And Epileptic Encephalopathy 89
Cerebral atrophy, Hypoplasia of the corpus callosum, Macrocephaly, Death in childhood, Anteverted... OMIM:619124
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Fanconi Anemia, Complementation Group G
Microcephaly, Abnormal thumb morphology, Microphthalmia, Growth delay OMIM:614082
Lissencephaly 8
Hypoplasia of the corpus callosum, Microphthalmia, Polymicrogyria, Type II lissencephaly, Agyria,... OMIM:617255
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Relative macrocephaly, Short ribs, Hypoplastic ilia, Micromelia, Postax... OMIM:617895
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hypoplasia of the corpus callosum, Short nose, Aganglionic megacolon, Anal stenosis, Inability to... OMIM:614207
Laurin-Sandrow Syndrome
Absent tibia, Fibular duplication, Absent radius, Tarsal synostosis, Abnormal metacarpal morpholo... ORPHA:2378
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Congenital Disorder Of Glycosylation, Type Iig
Progressive microcephaly, Short long bone, Glossoptosis, Microcephaly, Broad femoral neck, Left v... OMIM:611209
H Syndrome
Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Abnormal cardiovascular system physi... ORPHA:168569
1Q21.1 Microdeletion Syndrome
Microphthalmia, Clinodactyly of the 5th finger, High palate, Intrauterine growth retardation, Ank... ORPHA:250989
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes, Cubitus v... ORPHA:1836
Babesiosis
Congestive heart failure, Myocardial infarction, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly... ORPHA:108
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular adenoma, Enlarged kidney, Tubulointerstitial fibrosis, Chronic neutropenia, Hypert... ORPHA:79259
Rapp-Hodgkin Syndrome
Microdontia, Bifid uvula, Syndactyly, Anhidrotic ectodermal dysplasia, Small, conical teeth, Narr... OMIM:129400
Solitary Median Maxillary Central Incisor
Microphthalmia, Solitary median maxillary central incisor, Anophthalmia, Prominent median palatal... OMIM:147250
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Toe clinodactyly, Short stature, Dentinogenesis imperfecta, Short foot, C... ORPHA:166277
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Macrocephaly, Absent extraocular muscles, Hypoplasia of the maxilla, Rieger anomaly, Short statur... OMIM:109120
Schinzel-Giedion Syndrome
Retrognathia, Broad alveolar ridges, Tibial bowing, Wide mouth, Short distal phalanx of finger, O... ORPHA:798
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Van Maldergem Syndrome 2
Subcortical band heterotopia, Clinodactyly, Short 4th metacarpal, Short fourth metatarsal, Ulnar ... OMIM:615546
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short long bone, Metaphyseal irregularity, Long philtrum, Hip dislocation, Short stature, Telangi... OMIM:616007
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Brachydactyly, Disproportionate short stature, Acromesomelia, Depressed... ORPHA:40
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Short nose, Cleft soft palate, Anteverted nares, Microcephaly, Hypoxemia, Micrognathia, Short sta... ORPHA:2282
Oculodentodigital Dysplasia
Cerebral calcification, Broad alveolar ridges, Tooth agenesis, Ataxia, Aplasia/Hypoplasia of the ... ORPHA:2710
Warburg Micro Syndrome 4
Hypoplasia of the corpus callosum, Secondary microcephaly, Microphthalmia, Inability to walk, Sev... OMIM:615663
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities... OMIM:619636
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypertension, Episodic hemolytic anemia, Proteinuria, Macroscopic hematuria, Mem... ORPHA:251004
Joubert Syndrome 14
Hypoplasia of the corpus callosum, Microphthalmia, Short philtrum, Cerebellar vermis hypoplasia, ... OMIM:614424
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u... ORPHA:1046
Autosomal Recessive Cutis Laxa Type 2A
Secondary microcephaly, Dysplastic corpus callosum, Postnatal growth retardation, Excessive wrink... ORPHA:357058
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
16P11.2P12.2 Microdeletion Syndrome
Bilateral single transverse palmar creases, Orofacial cleft, Long nose, Short nose, Proximal plac... ORPHA:261211
Three M Syndrome 1
Postnatal growth retardation, Thick lower lip vermilion, Clinodactyly of the 5th finger, Slender ... OMIM:273750
Neu-Laxova Syndrome
Retrognathia, Cerebral calcification, Everted lower lip vermilion, Microcephaly, Bifid uvula, Int... ORPHA:2671
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Sandal gap, Short hallux, Agenesis of permanent teeth, Oligodontia of primary ... OMIM:216300
Meier-Gorlin Syndrome 1
Absent sternal ossification, Short ribs, Microdontia, Death in infancy, Microcephaly, Intrauterin... OMIM:224690
Developmental And Epileptic Encephalopathy 75
Hypoplasia of the corpus callosum, Secondary microcephaly, Short nose, Short philtrum, Frontal co... OMIM:618437
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Mesomelia, Syndactyly, Long philtrum, Clinodactyly, Triangular mouth, Anteverted nar... OMIM:616894
20Q11.2 Microduplication Syndrome
Tented philtrum, Retrognathia, Short nose, Limited elbow extension, Clinodactyly of the 5th finge... ORPHA:363659
Blomstrand Lethal Chondrodysplasia
Neonatal short-limb short stature, Short nose, Rhizomelia, Flared metaphysis, Metaphyseal cupping... ORPHA:50945
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Abnormal fibula morphology, Retrognathia, Macrocephaly, Short nose, Sandal gap, Abnormal dental e... ORPHA:1812
Brachytelephalangic Chondrodysplasia Punctata
Optic nerve hypoplasia, Short distal phalanx of toe, Short distal phalanx of finger, Calcaneal ep... ORPHA:79345
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Petechiae, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia... OMIM:619463
Short Stature, Microcephaly, And Endocrine Dysfunction
Pes cavus, Long nose, Disproportionate short-limb short stature, Tooth malposition, Broad-based g... OMIM:616541
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, Urinary bladder inflammatio... ORPHA:449395
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Proteinuria, Splenomegaly OMIM:620010
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Macrocephaly, Cachexia, Ataxia, Distal arthrogryposis, Skeletal muscle atrophy, Myopathy ORPHA:42
Microlissencephaly-Micromelia Syndrome
Secondary microcephaly, Short nose, Bilateral single transverse palmar creases, 11 pairs of ribs,... ORPHA:50810
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Myhre Syndrome
Microphthalmia, Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Microcephaly... OMIM:139210
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Toriello-Carey Syndrome
Microcephaly, Intrauterine growth retardation, Clinodactyly, Aplasia/Hypoplasia of the cerebellum... ORPHA:3338
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Cyanosis, Abnormality of masticatory muscle, Triceps weakness, Upper limb mu... ORPHA:98913
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Abnormality of the temporomandibular joint, Inability to walk, Myositis, Faci... ORPHA:258
Cerebrocostomandibular Syndrome
Glossoptosis, Microcephaly, Short humerus, Long philtrum, 10 pairs of ribs, Calcaneal epiphyseal ... OMIM:117650
Hemochromatosis, Type 2A
Congestive heart failure, Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Dila... OMIM:602390
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Microphthalmia, Microdontia, Telangiectasia, Short stature, Short palm... OMIM:268400
Holoprosencephaly 9
Microphthalmia, Thin corpus callosum, Solitary median maxillary central incisor, Optic nerve hypo... OMIM:610829
Chromosome 22Q11.2 Deletion Syndrome, Distal
Short stature, Cleft palate, Smooth philtrum, Intrauterine growth retardation, Thin upper lip ver... OMIM:611867
Short Syndrome
Abnormal zygomatic bone morphology, Excessive wrinkled skin, Abnormal dental enamel morphology, A... ORPHA:3163
Alkuraya-Kucinskas Syndrome
Adducted thumb, Overlapping toe, Clinodactyly, Dandy-Walker malformation, Anteverted nares, Campt... OMIM:617822
Chromosome 8Q21.11 Deletion Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Short philtrum, Exaggerated cupid's bow, High ... OMIM:614230
Nievergelt Syndrome
Pes cavus, Tarsal synostosis, Genu valgum, Mesomelic short stature, Metatarsus adductus, Short st... OMIM:163400
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Short nose, Progressive microcephaly, Cerebral white matter atrophy, High palate, Abnormal perive... ORPHA:329178
Laron Syndrome
Delayed menarche, Short long bone, Limb undergrowth, Severe short stature OMIM:262500
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cerebral atrophy, Wide anterior fontanel, Decreased body weight, Microcephaly, Short stature, Gro... OMIM:614886
Warburg Micro Syndrome 2
Hypoplasia of the corpus callosum, Clinodactyly of the 5th toe, Secondary microcephaly, Global br... OMIM:614225
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr... OMIM:200995
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Sandal gap, Conical tooth, Oligodontia, Thick nasal alae, Microdontia, Persistenc... OMIM:618727
Lymphatic Malformation 5
Facial edema, Cleft palate, Predominantly lower limb lymphedema OMIM:153200
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Pes cavus, Macrocephaly, Upper limb undergrowth, Gingival over... OMIM:169400
Mend Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Abnormal nasal bridge morphology, Limb hyperto... ORPHA:401973
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Abscess, Splenomegaly, Intermittent thrombocytopenia, Abnorma... OMIM:150550
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Cyanosis, Myopathy ORPHA:91130
Teebi-Shaltout Syndrome
Rocker bottom foot, Microphthalmia, Microcephaly, Wide mouth, Syndactyly, Talipes equinovarus, Ol... OMIM:272950
Prader-Willi Syndrome Due To Translocation
Retrognathia, Everted lower lip vermilion, Microcephaly, Bifid uvula, Wide mouth, Intrauterine gr... ORPHA:177907
Galloway-Mowat Syndrome 1
Microphthalmia, Narrow nasal ridge, Microcephaly, Wide mouth, Ataxia, Intrauterine growth retarda... OMIM:251300
Autosomal Recessive Kenny-Caffey Syndrome
Postnatal growth retardation, Calvarial osteosclerosis, Thin long bone diaphyses, Cortical thicke... ORPHA:93324
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Acetabular dysplasia, Mandibular prognathia, Oligodontia, Short metacarpal, Broad... OMIM:201180
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Microcephaly, Bifid uvula, Long philtrum, Polydactyly, Short phi... OMIM:301022
Congenital Disorder Of Glycosylation, Type Iia
Retrognathia, Proximal placement of thumb, Everted lower lip vermilion, Microcephaly, Wide mouth,... OMIM:212066
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Presynaptic Congenital Myasthenic Syndromes
Tip-toe gait, Pes cavus, Distal lower limb muscle weakness, Difficulty walking, Cyanosis, Frontal... ORPHA:98914
Congenital Myasthenic Syndrome
Tip-toe gait, Pes cavus, Distal lower limb muscle weakness, Difficulty walking, Cyanosis, Frontal... ORPHA:590
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema, High palate OMIM:613611
Mosaic Variegated Aneuploidy Syndrome 1
Microcephaly, Intrauterine growth retardation, Long philtrum, Triangular mouth, Dandy-Walker malf... OMIM:257300
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Autosomal Recessive Robinow Syndrome
Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Disproporti... ORPHA:1507
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Sinus tachycardia, Hyperten... OMIM:614473
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Retrognathia, Short nose, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Meckel diverti... ORPHA:163961
Nance-Horan Syndrome
Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped incisors, Short... OMIM:302350
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia, Death in childhood, Hypoplasia of the maxilla, Enterocolitis, Micrognathia, Failu... OMIM:301108
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Clinodactyly of the 5th finger, Wide nose, Severe postn... ORPHA:2399
9q subtelomeric deletion syndrome
Microcephaly, Short nose, Anteverted nares, Protruding tongue DECIPHER:52
Biemond Syndrome Type 2
Delayed puberty, Preaxial polydactyly, Microphthalmia, Short stature, Obesity ORPHA:141333
Coffin-Lowry Syndrome
Short metacarpal, Everted lower lip vermilion, Microcephaly, Thick nasal septum, Cutis marmorata,... OMIM:303600
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hypoplasia of the corpus callosum, Short nose, Narrow nasal bridge, Metacarpophalangeal joint con... ORPHA:544503
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Microcephaly, Failure to thrive, Bifid uvula, Absent thumb, Submucous cleft hard palate OMIM:619239
Meier-Gorlin Syndrome 3
Patellar hypoplasia, Talipes equinovarus, Absent sternal ossification, Slender long bone, Aplasia... OMIM:613803
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Equinovarus deformity, Neonatal short-limb short stature, Short rib... OMIM:224400
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Retrognathia, Hypoplasia of the corpus callosum, Microphthalmia, Short philtrum... OMIM:616449
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Long nose, Limited elbow movement, Enlarged metaphyses, Short metac... ORPHA:508533
Neonatal Lupus Erythematosus
Aplastic anemia, Abnormal bleeding, Hepatomegaly, Anemia, Prolonged QT interval, Heart block, Pan... ORPHA:398124
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Macrocephaly, Short stature, Malar flattening, Hypoplasia of the zygomatic bone, Depr... ORPHA:2835
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly, ... OMIM:611490
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Choanal stenosis, Aglossia, Pursed lips OMIM:241310
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Proximal placement of thumb, Dislocated radial head, Microcephal... OMIM:122470
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Severe postnatal ... ORPHA:319675
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Clinodactyly of the 5th finger, Delayed eruption of teeth, Severe p... ORPHA:73272
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Retrognathia, Short nose, Anteverted nares, High palate, Growth delay, Recurrent upper respirator... OMIM:614069
Trisomy 10P
Retrognathia, Intrauterine growth retardation, Primary microcephaly, Abnormality of the hand, Uln... ORPHA:171929
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... ORPHA:86839
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular eje... OMIM:614096
Prolidase Deficiency
Short nose, Diffuse telangiectasia, Petechiae, High palate, Failure to thrive, Micrognathia, Prol... OMIM:170100
Stevenson-Carey Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Anteverted nares, Prominent nasal tip, Narrow ... OMIM:611961
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Abnormal bleed... OMIM:232200
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Hypoplasia of the corpus callosum, Hypomimic face, Abnormal cortical gyration... OMIM:617527
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Hypoplasia of the corpus callosum, Stillbirth, Patellar hypoplasia, Absent tibia, Bilateral talip... OMIM:119800
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Cirrhosis, Jaundice, Prolonged QT i... ORPHA:57777
Gaucher Disease, Perinatal Lethal
Retrognathia, Everted upper lip vermilion, Akinesia, Short nose, Purpura, Petechiae, Anteverted n... OMIM:608013
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent urinary tract infections, Leukopenia, Splenomegaly, Lymphopenia, Ventricu... OMIM:620210
Frontorhiny
Microphthalmia, Midline nasal groove, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Cam... ORPHA:391474
Adams-Oliver Syndrome 6
Truncus arteriosus, Portal hypertension, Tricuspid regurgitation, Renal hypoplasia, Splenomegaly,... OMIM:616589
Schisis Association
Congenital diaphragmatic hernia, Anencephaly, Anal atresia, Micromelia, Microcephaly, Tracheoesop... ORPHA:63862
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative dis... ORPHA:79456
Antley-Bixler Syndrome
Short nose, Talipes, Anteverted nares, Femoral bowing, Narrow mouth, Choanal atresia, Camptodacty... ORPHA:83
Erythrokeratodermia Variabilis
Cutaneous photosensitivity, Microcephaly, Patchy palmoplantar hyperkeratosis, Short stature, Weig... ORPHA:317
Geroderma Osteodysplasticum
Premature skin wrinkling, Periodontitis, Hyperextensibility of the finger joints, Mandibular prog... OMIM:231070
Macrocephaly-Intellectual Disability-Autism Syndrome
Lymphoid nodular hyperplasia, Short nose, Macrocephaly, Intestinal polyposis, Foot polydactyly, P... ORPHA:210548
Alpha-Mannosidosis, Infantile Form
Talipes valgus, Genu valgum, Abnormality of the sphenoid sinus, Macrocephaly, Widely spaced teeth... ORPHA:309282
Cerebrofacioarticular Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Caudal appendage, Anal stenosis, B... ORPHA:314679
Ritscher-Schinzel Syndrome 2
Convex nasal ridge, Postnatal growth retardation, Clinodactyly of the 5th finger, Short philtrum,... OMIM:300963
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Short nose, Calcinosis, Prematurely aged appearance, Osteolytic defects of the d... ORPHA:90154
Vitreoretinopathy, Neovascular Inflammatory
Retinal detachment, Posterior retinal neovascularization, Vitreous hemorrhage, Peripheral retinal... OMIM:193235
Microphthalmia, Syndromic 13
Microcephaly, Microphthalmia, Widely-spaced incisors, Short stature OMIM:300915
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Thick lower lip vermilion, Anteverted nares, Mandibular prognathia, Microcephaly,... OMIM:152950
Teebi Hypertelorism Syndrome 1
Short nose, Dental crowding, Anteverted nares, Short stature, Micrognathia, Natal tooth, Long phi... OMIM:145420
Mucopolysaccharidosis Type 2, Attenuated Form
Diaphyseal undertubulation, Macrocephaly, Wide nose, Otosclerosis, Gingival overgrowth, Abnormal ... ORPHA:217093
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Microphthalmia, Optic nerve hypoplasia, Polymicrogyria, Narrow mouth,... OMIM:614833
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Hemochromatosis, Type 1
Congestive heart failure, Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Asci... OMIM:235200
Robinow Syndrome
Mesomelic arm shortening, Acromesomelia, Broad alveolar ridges, Dental crowding, Mesomelia, Bifid... ORPHA:97360
Plaa-Associated Neurodevelopmental Disorder
Rocker bottom foot, Microcephaly, Long philtrum, Edema of the dorsum of feet, Abnormal cortical g... ORPHA:521426
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Microphthalmia, Postnatal growth retardation, Rhizome... OMIM:608940
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno... ORPHA:93476
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alv... ORPHA:99931
Dystonia-Aphonia Syndrome
Cerebral atrophy, Difficulty in tongue movements, Gingival overgrowth, Gait disturbance, Unsteady... ORPHA:412217
Apert Syndrome
Narrow palate, Convex nasal ridge, Esophageal atresia, Aplasia/Hypoplasia of the thumb, Finger sy... ORPHA:87
Idiopathic Bronchiectasis
Cachexia, Clubbing ORPHA:60033
Fanconi Anemia, Complementation Group W
Hypoplasia of the radius, Abnormal radial ray morphology, Abnormal periventricular white matter m... OMIM:617784
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Clinodactyly of the 5th finger, Anteverted nares, Biparietal narrowing, Hypoplasia of the maxilla... ORPHA:228396
Ohdo Syndrome, X-Linked
Microphthalmia, Microdontia, Long philtrum, Overlapping toe, Clinodactyly, Long thumb, Ulnar devi... OMIM:300895
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Microphthalmia, Pericallosal lipoma, Pectoral muscle hypoplasia/aplasia, Hypoplasi... ORPHA:306542
Pontocerebellar Hypoplasia, Type 10
Hypoplasia of the corpus callosum, Short nose, Widely spaced teeth, Limb hypertonia, Low hanging ... OMIM:615803
Fanconi Anemia, Complementation Group P
Hypoplasia of the radius, Microcephaly, Short stature, Micrognathia, Growth delay, Absent thumb, ... OMIM:613951
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Optic nerve hypoplasia, Prominent fingertip pads, Glossoptos... OMIM:602535
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Widely spaced teeth, Mandibular prognathia, Oligodontia, Microdontia, Hy... OMIM:601216
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hepatomegaly, Chylopericardium, Ascites, Pulmonary arterial hypertensio... ORPHA:2414
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Mesomelic short stature, Metacarpal sy... OMIM:600383
Nablus Mask-Like Facial Syndrome
Retrognathia, Sandal gap, Everted lower lip vermilion, Long philtrum, Clinodactyly, Anteverted na... OMIM:608156
Isolated Arrhinia
Tessier cleft, Midline defect of the nose, Microphthalmia, Aplasia/Hypoplasia of the nasal septum... ORPHA:1134
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Clinodactyly of the 5th finger, Hydranencephaly, Narrow nasal ridge, 2-3 toe syndacty... OMIM:236500
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short nose, Bilateral choanal atresia, Clinodactyly of the 5th finger, Esophageal atresia, Anteve... OMIM:619859
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Mandibular prognathia, Relative macrocephaly, Broad thumb, Mesomelia, Brachydactyly, ... ORPHA:171866
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
8Q21.11 Microdeletion Syndrome
Microphthalmia, Abnormal metacarpal morphology, Short philtrum, Wide nose, Finger syndactyly, Abs... ORPHA:284160
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Chromosome 2P16.1-P15 Deletion Syndrome
Retrognathia, Optic nerve hypoplasia, Everted lower lip vermilion, Microcephaly, Arachnodactyly, ... OMIM:612513
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Petechiae, Splenomegaly,... ORPHA:79477
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Short nose, Macrocephaly, Short philtrum, Anteverted nares, Exaggerated cupid's bow, Prominent no... OMIM:618316
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Anencephaly 2
Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate, Median cleft upper lip OMIM:619452
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature, Syndactyly, Brachydactyly, Clinodactyly OMIM:610023
Leishmaniasis
Abnormal bleeding, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morph... ORPHA:507
Axenfeld-Rieger Syndrome
Anal stenosis, Everted lower lip vermilion, Microdontia, Hypoplasia of the maxilla, Growth delay,... ORPHA:782
Goldberg-Shprintzen Syndrome
Hypoplasia of the corpus callosum, Aganglionic megacolon, Clinodactyly of the 5th finger, Short p... OMIM:609460
Joubert Syndrome 22
Hypoplasia of the corpus callosum, Microphthalmia, 2-3 toe syndactyly, Postaxial hand polydactyly... OMIM:615665
Yunis-Varon Syndrome
Rocker bottom foot, Microphthalmia, Broad secondary alveolar ridge, Absent sternal ossification, ... ORPHA:3472
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Clubbing of fingers, Glossitis, Cachexia, Clubbing, Hamartomatous pol... OMIM:175500
Skin Creases, Congenital Symmetric Circumferential, 1
Hypoplasia of the corpus callosum, Microphthalmia, Dandy-Walker malformation, High palate, Narrow... OMIM:156610
Peho Syndrome
Abnormal palate morphology, Short nose, Pedal edema, Anteverted nares, Gingival overgrowth, Poren... ORPHA:2836
Atelosteogenesis Type I
Abnormal fibula morphology, Rhizomelia, Neonatal short-trunk short stature, Short long bone, Micr... ORPHA:1190
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Short thumb, Intrauterine growth retardation OMIM:609054
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Macrocephaly, Excessive wrinkled skin, Short greater sciatic notc... ORPHA:1860
Greenberg Dysplasia
Retrognathia, Disproportionate short-limb short stature, Short ribs, Short long bone, Short metac... OMIM:215140
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Combined Oxidative Phosphorylation Deficiency 25
Cerebral atrophy, Short nose, Anteverted nares, Hypoplasia of the pons, Failure to thrive, Short ... OMIM:616430
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Congenital Fibrinogen Deficiency
Microphthalmia, Cyanosis, Clubbing of fingers, Gingival bleeding, Volvulus, Right ventricular hyp... ORPHA:335
Mucopolysaccharidosis Type 2, Severe Form
Diaphyseal undertubulation, Macrocephaly, Wide nose, Otosclerosis, Gingival overgrowth, Temporoma... ORPHA:217085
Hepatoportal Sclerosis
Prolonged prothrombin time, Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Ja... ORPHA:64743
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Diastema OMIM:179250
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Flat acetabular roof, Microcephaly, Perisylvian polymicrogyria, Ataxia, Metaphyseal irregularity,... OMIM:610442
Mosaic Variegated Aneuploidy Syndrome 2
Short nose, Rhizomelia, Clinodactyly of the 5th finger, Single transverse palmar crease, Narrow m... OMIM:614114
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb b... ORPHA:2788
Image Syndrome
Intrauterine growth retardation, Metaphyseal dysplasia, Depressed nasal bridge, Micromelia ORPHA:85173
Greenberg Dysplasia
Rhizomelia, Abnormal pelvis bone ossification, Micromelia, Severe short-limb dwarfism, Micrognath... ORPHA:1426
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Microphthalmia, Optic nerve hypoplasia, Decreased body weight, Microcep... OMIM:609053
C Syndrome
Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Dislocated radial he... ORPHA:1308
Thanatophoric Dysplasia, Type Ii
Temporal lobe dysplasia, Flared metaphysis, Short greater sciatic notch, Short ribs, Hypoplastic ... OMIM:187601
Thyroid Dyshormonogenesis 1
Growth delay, Macroglossia OMIM:274400
Kapur-Toriello Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Microphthalmia, Low hang... OMIM:244300
Trigonocephaly 1
Short nose, High, narrow palate, Meckel diverticulum, Microcephaly, Long philtrum, Wide nasal bridge OMIM:190440
Johanson-Blizzard Syndrome
Abnormal nostril morphology, Short nose, Delayed eruption of teeth, Oligodontia, Abnormality of t... ORPHA:2315
Meckel Syndrome 14
Retrognathia, Microphthalmia, Talipes, Anteverted nares, Postaxial hand polydactyly, Bowing of th... OMIM:619879
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst... ORPHA:1414
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn... OMIM:608022
Congenital Myopathy 22B, Severe Fetal
Retrognathia, Dental crowding, Triangular mouth, Short philtrum, Elbow flexion contracture, Limb ... OMIM:620369
Mulibrey Nanism
Congestive heart failure, Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, C... OMIM:253250
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Death in infancy, ... OMIM:210710
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin... OMIM:618892
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Flexion contracture of toe, Death in adolescence, Recurrent sinusitis,... OMIM:256040
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Aortic valve s... OMIM:230800
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Frontonasal Dysplasia 2
Hypoplasia of the corpus callosum, Microphthalmia, Widely spaced teeth, Cleft ala nasi, Conical t... OMIM:613451
Sanjad-Sakati Syndrome
Postnatal growth retardation, Intestinal obstruction, Thin vermilion border, Abnormal dental enam... ORPHA:2323
Chondrodysplasia Punctata, Autosomal Dominant
Epiphyseal stippling, Hip contracture, Knee flexion contracture, Hypoplasia of the nasal bone, Mo... OMIM:118650
Lathosterolosis
Short nose, Talipes, Cerebral calcification, Gingival overgrowth, Anteverted nares, Postaxial han... ORPHA:46059
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
7Q31 Microdeletion Syndrome
Postnatal growth retardation, Macrocephaly, Torticollis, Clinodactyly of the 2nd finger, Prominen... ORPHA:251061
Bamforth-Lazarus Syndrome
Polyhydramnios, Cleft palate OMIM:241850
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Relative macrocephaly, Everted lower lip vermilion, Intestinal m... OMIM:601803
Isolated Thyroid-Stimulating Hormone Deficiency
Growth delay, Delayed proximal femoral epiphyseal ossification, Failure to thrive, Prolonged neon... ORPHA:90674
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Microphthalmia, Anencephaly, Dandy-Walker malformation, Postax... OMIM:611134
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Remnants of the hyaloid vascular system, Tractional re... ORPHA:91495
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Short nose, Macrocephaly, Wide anterior fontanel, Hypoplasia of ... OMIM:222448
Immunodeficiency 109 With Lymphoproliferation
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia OMIM:620282
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Short nose, Aganglionic megacolon, Anal stenosis, Anal atresia, Microcephaly, Shortening of all d... OMIM:614749
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven... ORPHA:439
Endocrine-Cerebroosteodysplasia
Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Aplasia/Hypoplasia of the cerebellum,... OMIM:612651
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Chromosome 10Q26 Deletion Syndrome
Radial deviation of finger, Sandal gap, Prominent fingertip pads, Microcephaly, Long philtrum, 2-... OMIM:609625
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles OMIM:264270
Paternal Uniparental Disomy Of Chromosome 6
Postnatal growth retardation, Retrognathia, Gingival overgrowth, High palate, Micrognathia, Promi... ORPHA:96191
Walker-Warburg Syndrome
Muscular dystrophy, Microphthalmia, Abnormal cortical gyration, Macrocephaly, Lissencephaly, Anop... ORPHA:899
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Wide nasal bridge, Dep... OMIM:167730
Hallermann-Streiff Syndrome
Convex nasal ridge, Supernumerary tooth, High, narrow palate, Microphthalmia, Clinodactyly of the... ORPHA:2108
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Steatorrhea, Cutaneous photosensitivity, Cachexia, Short palm, Brachydactyly ORPHA:3217
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis OMIM:300635
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Short nose, Gingival overgrowth, P... OMIM:619179
Astley-Kendall Dysplasia
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia ORPHA:85175
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Disproportionate short-limb short stature, Femoral bowing, Relative macrocephaly, Short long bone... OMIM:618019
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Microphthalmia, Death in childhood, Dandy-Walker malformation, Type II lissen... OMIM:613153
Hallermann-Streiff Syndrome
Microphthalmia, Everted lower lip vermilion, Microcephaly, Narrow nose, Telangiectasia, Narrow pa... OMIM:234100
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv... ORPHA:514
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Supraventricular arrhythmia, Renal cyst, Retinal hemorrhage, Raynaud phenomenon, Lacun... OMIM:611773
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Ret... ORPHA:500095
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Thin vermilion border, Disproportionate short-limb short stature, F... OMIM:602557
Charge Syndrome
Delayed puberty, Microphthalmia, Anosmia, Tracheoesophageal fistula, Absent tibia, Microcephaly, ... OMIM:214800
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Osteogenesis Imperfecta, Type Xvi
Rhizomelia, Angulated humerus, Short long bone, Bowing of the long bones, Tooth agenesis, Short s... OMIM:616229
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal metaphysis morphology, Retrognathia, Hypoplasia of the corpus callosum, Disproportionate... ORPHA:2637
Dubowitz Syndrome
Sandal gap, Broad thumb, Microcephaly, Cutis marmorata, Wide mouth, Abnormality of thumb phalanx,... ORPHA:235
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Acute Promyelocytic Leukemia
Abnormal bleeding, Purpura, Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Petechiae, Gingival... ORPHA:520
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Ulnar-Mammary Syndrome
Delayed puberty, Aplasia of the pectoralis major muscle, Abnormality of the wrist, Abnormal metac... ORPHA:3138
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S... OMIM:618495
Adenylosuccinase Deficiency
Cerebral atrophy, Short nose, Inability to walk, Anteverted nares, Gait ataxia, Microcephaly, Gro... OMIM:103050
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Narrow greater sciatic notch, Short greater sciatic notch, Mecke... OMIM:312870
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Thin corpus callosum, Cyanosis, Inability to walk, Limb hypertonia, Protruding tongue, Microcepha... OMIM:619580
Myelofibrosis
Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullar... OMIM:254450
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Long nose, 11 pairs of ribs, Dental crowding, Oligodontia, Short lo... OMIM:619184
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Coxa vara, Severe short stature, Micromelia ORPHA:168555
Autosomal Dominant Robinow Syndrome
Retrognathia, Severe short stature, Long philtrum, Anodontia, Coxa valga, Hip dislocation, Short ... ORPHA:3107
Intestinal Dysmotility Syndrome
High palate, Failure to thrive, Weight loss, Broad philtrum, Pes valgus OMIM:620045
Oculocerebral Hypopigmentation Syndrome, Cross Type
Abnormal thumb morphology, Abnormal palate morphology, Short nose, Dandy-Walker malformation, Ant... ORPHA:2719
Myhre Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Gingival cleft, Craniofacial hyperostosis,... ORPHA:2588
Fryns Syndrome
Congenital diaphragmatic hernia, Microphthalmia, Intestinal malrotation, Wide mouth, Long philtru... ORPHA:2059
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Gaucher Disease Type 2
Hepatomegaly, Cardiac arrest, Splenomegaly ORPHA:77260
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Cavum septum pellucidum, Relative m... OMIM:617306
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Short nose, Macrocephaly, Cavum septum pellucidum, Congenital muscular torticollis, Wide anterior... ORPHA:457279
Thoracic Dysplasia-Hydrocephalus Syndrome
Abnormal metaphysis morphology, Depressed nasal ridge, Short stature, Limb undergrowth, Ataxia ORPHA:1861
Shprintzen-Goldberg Craniosynostosis Syndrome
Narrow palate, Genu valgum, Dislocated radial head, Genu recurvatum, Wide anterior fontanel, Ante... OMIM:182212
Pulmonary Blastoma
Weight loss ORPHA:64741
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Fibular bowing,... ORPHA:3344
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Short uvula, Flat acetabular roof, Short lingual frenulum, Short ribs, High palate, ... OMIM:614091
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Retrognathia, Microphthalmia, Sandal gap, Joint contracture of... OMIM:618914
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Microphthalmia, Widely spaced teeth, Microdontia, Microcephaly, Hyp... ORPHA:2728
Holoprosencephaly 7
Microphthalmia, Solitary median maxillary central incisor, Bilateral cleft palate, Microcephaly, ... OMIM:610828
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Microcephaly, Recurrent sinusitis, Overlapping toe, Anteverted nares, Postaxial hand polydactyly,... OMIM:213980
Silver-Russell Syndrome 3
Postnatal growth retardation, Retrognathia, Clinodactyly of the 5th finger, Relative macrocephaly... OMIM:616489
16P13.11 Microdeletion Syndrome
Short nose, Anteverted nares, Exaggerated cupid's bow, Microcephaly, Camptodactyly of finger, Cle... ORPHA:261236
Intellectual Developmental Disorder, X-Linked 21
Short nose, Dental crowding, Mandibular prognathia, Tented upper lip vermilion, Open mouth OMIM:300143
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Costello Syndrome
Cerebral atrophy, Deep plantar creases, Rhabdomyosarcoma, Macrocephaly, Thick lower lip vermilion... OMIM:218040
Andersen-Tawil Syndrome
Clinodactyly of the 5th toe, Abnormality of dental color, Dental crowding, 2-3 toe syndactyly, Ol... ORPHA:37553
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebral atrophy, Congenital diaphragmatic hernia, Long philtrum, Macrocephaly, Thin vermilion bo... OMIM:614080
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Disproportionate short-limb short ... ORPHA:2502
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Short nose, Microphthalmia, Anteverted nares, Cerebral cortical atrophy, Hypoplasia... OMIM:234050
Ear-Patella-Short Stature Syndrome
Retrognathia, Microcephaly, Bifid uvula, Severe short stature, Abnormal epiphysis morphology, Int... ORPHA:2554
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Lateral femoral bowing, Severe short stature, Squared ili... OMIM:112350
Waldenström Macroglobulinemia
Congestive heart failure, Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphaden... ORPHA:33226
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu... ORPHA:968
Kagami-Ogata Syndrome
Retrognathia, Anteverted nares, Diastasis recti, Hypoplasia of the maxilla, Long fingers, Microgn... OMIM:608149
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Underdeveloped nasal alae, Short stature, Growth delay, Cleft pa... ORPHA:250999
Neurooculocardiogenitourinary Syndrome
Coloboma, Patent foramen ovale, Tricuspid regurgitation, Cardiomegaly, Atrial septal defect, Vent... OMIM:618652
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Calcification of falx cerebri, Bifid nasal tip, Syndactyly, Tubulonodular... OMIM:603671
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Acute l... ORPHA:158057
Opsismodysplasia
Short nose, Macrocephaly, Rhizomelia, Disproportionate short-limb short stature, Squared iliac bo... OMIM:258480
Chondrodysplasia Punctata 2, X-Linked Dominant
Postnatal growth retardation, Microphthalmia, Rhizomelia, Epiphyseal stippling, Dandy-Walker malf... OMIM:302960
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Orofacial cleft, Microphthalmia, Anophthalmia OMIM:611638
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Purpura, Glome... ORPHA:91138
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Wide anterior fontanel, Anteverted... ORPHA:2021
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Short finger, Pituitary dwarfism, Optic nerve hypoplasia, Growth delay, Delayed proximal femoral ... ORPHA:226307
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, P... ORPHA:98850
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short nose, Macrocephaly, Cubitus valgus, Slender long bone, Genu recurvatum, Anteverted nares, S... ORPHA:1185
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Disproportionate short-limb short stature, Delayed epiphyseal ossification, Cone-shap... OMIM:618618
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Microphthalmia, Jaundice, Microcephaly, Short stature, Intrauteri... ORPHA:290
Spondyloepiphyseal Dysplasia Congenita
Increased head circumference, Limited elbow movement, Genu valgum, Abnormal foot morphology, Smal... ORPHA:94068
Mucopolysaccharidosis Type 3
Macrocephaly, Genu valgum, Adenoiditis, Craniofacial hyperostosis, Thick nasal alae, Abnormality ... ORPHA:581
Craniolenticulosutural Dysplasia
Thin vermilion border, Wide nose, Delayed eruption of teeth, Premature loss of teeth, High palate... ORPHA:50814
Achondrogenesis, Type Ib
Neonatal short-limb short stature, Stillbirth, Short ribs, Hypoplastic ilia, Micromelia, Malar fl... OMIM:600972
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Raynaud phenomenon, Pulmonary venous ... ORPHA:79128
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Microcephaly, Wide mouth, Narrow nose, 2-3 toe cutaneous syndact... OMIM:618454
Short-Rib Thoracic Dysplasia 12
Anencephaly, Short ribs, Short long bone, Intestinal malrotation, Intrauterine growth retardation... OMIM:269860
Weill-Marchesani Syndrome 1
Narrow palate, Broad phalanges of the hand, Tooth malposition, Microspherophakia, Broad metacarpa... OMIM:277600
Laryngeal Abductor Paralysis
Microcephaly, Cyanosis, Talipes equinovarus OMIM:150260
Neu-Laxova Syndrome 1
Rocker bottom foot, Microphthalmia, Radial deviation of finger, Swollen lip, Intrauterine growth ... OMIM:256520
Native American Myopathy
Abnormality of skeletal muscle fiber size, Inability to walk, High palate, Camptodactyly, Congeni... ORPHA:168572
Opsismodysplasia
Abnormal metaphysis morphology, Short nose, Macrocephaly, Squared iliac bones, Hypoplastic pubic ... ORPHA:2746
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Slender long bone, Flared metaphysis, Ankyloglossia, Death in infancy, ... OMIM:602361
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis... ORPHA:846
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom... OMIM:130650
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Purpura, Hepatomegaly, Anemia, Petechiae, Vasculitis in the skin, Splenomegaly OMIM:620296
Cockayne Syndrome B
Square pelvis bone, Microphthalmia, Hypoplastic iliac wing, Hypoplastic pelvis, Microcephaly, Ata... OMIM:133540
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Conical tooth, Anteverted nares, Underdeveloped nasal alae, Abnormality of the de... ORPHA:228390
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Microphthalmia, Microcephaly, Short stature, Simplified gyral pattern, Pachygyr... OMIM:251270
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Jeune Syndrome
Abnormal metaphysis morphology, Cone-shaped epiphysis, Postaxial hand polydactyly, Abnormal pelvi... ORPHA:474
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Branchiogenic-Deafness Syndrome
Abnormal foot morphology, Short stature, Trismus, Short distal phalanx of finger, Submucous cleft... OMIM:609166
Mosaic Trisomy 9
Rocker bottom foot, Deep plantar creases, Tessier cleft, Microphthalmia, Deep palmar crease, Dand... ORPHA:99776
Pfeiffer Syndrome Type 3
Short nose, Short hallux, Finger syndactyly, High palate, Choanal atresia, Anal atresia, Broad th... ORPHA:93260
Eales Disease
Ischemic stroke, Peripheral retinal neovascularization, Transient ischemic attack, Rhegmatogenous... ORPHA:40923
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ... OMIM:619652
17Q12 Microduplication Syndrome
Microphthalmia, Finger syndactyly, Cortical dysplasia, Tracheoesophageal fistula, Cleft palate, T... ORPHA:261272
Lhermitte-Duclos Disease
Macrocephaly, Polymicrogyria, Hand polydactyly, Ataxia, Macroglossia ORPHA:65285
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Single transverse palmar crease OMIM:218550
Stickler Syndrome, Type I
Abnormal femoral epiphysis morphology, Anteverted nares, Arachnodactyly, Micrognathia, Bifid uvul... OMIM:108300
Microform Holoprosencephaly
Orofacial cleft, Short nose, Solitary median maxillary central incisor, Short philtrum, Narrow na... ORPHA:280200
Vitamin D-Dependent Rickets, Type 2A
Difficulty walking, Fibular bowing, Delayed eruption of teeth, Delayed epiphyseal ossification, E... OMIM:277440
Geleophysic Dysplasia 3
Limited elbow movement, Anteverted nares, Epiphyseal dysplasia, Short stature, Limb undergrowth, ... OMIM:617809
Trisomy 13
Bilateral single transverse palmar creases, High, narrow palate, Microphthalmia, Anophthalmia, Po... ORPHA:3378
Meckel Syndrome, Type 2
Polydactyly, Microphthalmia, Anencephaly, Dandy-Walker malformation, Postaxial hand polydactyly, ... OMIM:603194
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Microphthalmia, Cleft palate OMIM:120433
Rubinstein-Taybi Syndrome 1
Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Dental crowding, Hypoplasti... OMIM:180849
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Cerebral calcification, Abnormality of the lower limb, Tibial bowing,... ORPHA:3035
Fontaine Progeroid Syndrome
Retrognathia, Microphthalmia, Everted lower lip vermilion, Microdontia, Death in infancy, Microce... OMIM:612289
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Finger syndactyly, Hypodontia, Adactyly, Split hand, High palate, ... ORPHA:989
Galloway-Mowat Syndrome 3
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, High palate, Narrow mouth, C... OMIM:617729
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphadenopathy, Renal insufficiency, Lymphocytosis, Cardiac arrest, Nephrotic syndr... ORPHA:139402
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Dubowitz Syndrome
Microphthalmia, Microcephaly, Syndactyly, Intrauterine growth retardation, Hypoplasia of the iris... OMIM:223370
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Short nose, Macrocephaly, Wide anterior fontanel, Intestinal mal... ORPHA:2143
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Papilledema, Hepatosplenomegaly, Eosinophilia OMIM:607115
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly ORPHA:172
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Delayed puberty, Pro... ORPHA:199
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hypoplasia of the corpus callosum, Megalencephaly, Rhizomelia, Macrocephaly, Wide anterior fontan... OMIM:616482
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
2-4 toe cutaneous syndactyly, Retrognathia, Microcephaly, Abnormal toe morphology, Ataxia, Intrau... ORPHA:268261
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran... OMIM:618935
Absent Eyebrows And Eyelashes With Mental Retardation
Microcephaly, Short nose, Convex nasal ridge OMIM:200130
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Elsahy-Waters Syndrome
Bifid nasal tip, Bifid uvula, Broad philtrum, Abnormality of the anus, Long philtrum, Phthisis bu... OMIM:211380
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Orofacial cleft, Microphthalmia, Muscular dystrophy, Type II lissencephaly ORPHA:324416
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Microcephaly, Downturned corners of mouth, Obesity, Broad nasal tip, Brachydactyly, ... OMIM:619680
Rauch-Steindl Syndrome
Postnatal growth retardation, Thin vermilion border, Clinodactyly of the 5th finger, Short philtr... OMIM:619695
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Relapsing Fever
Prolonged prothrombin time, Acute kidney injury, Abnormal bleeding, Jaundice, Anemia, Hematuria, ... ORPHA:91547
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Cleft hard palate, Talipes, Delay... OMIM:300990
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:848
Cree Mental Retardation Syndrome
Rocker bottom foot, Cleft soft palate, Cutaneous finger syndactyly, Micrognathia, Aplasia/Hypopla... OMIM:606851
Meckel Syndrome, Type 5
Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the long bones, Cleft upper li... OMIM:611561
Amyotrophic Lateral Sclerosis
Progressive spinal muscular atrophy, Progressive distal muscular atrophy, Cachexia, Upper limb mu... ORPHA:803
Trichothiodystrophy 1, Photosensitive
Retrognathia, Intestinal obstruction, Short nose, Microphthalmia, Triangular mouth, Cutaneous pho... OMIM:601675
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Dicarboxylic aciduria, Hepatomegaly, Microvesicular hepatic steatosis, ... OMIM:212140
Kaufman Oculocerebrofacial Syndrome
Microcephaly, Intestinal malrotation, Anteverted nares, Short stature, Carious teeth, Failure to ... OMIM:244450
Oculo-Palato-Cerebral Syndrome
Global brain atrophy, High, narrow palate, Microphthalmia, Frontal cortical atrophy, Microcephaly... ORPHA:2714
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Retrognathia, Macrocephaly, Deep palmar crease, Inability to walk, Delayed erup... ORPHA:1675
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Hypoplasia of the corpus callosum, Clinodactyly of the 5th toe, Retrognathia, Secondary microceph... OMIM:620113
Double Outlet Right Ventricle
Narrow mouth, Intestinal malrotation, Failure to thrive, Short stature, Cleft palate, Submucous c... ORPHA:3426
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Dental crowding, Relative macrocephaly, Wide mouth, Ataxia, Short philtrum, Mala... OMIM:300967
Sandhoff Disease
Macrocephaly, Death in childhood, Ataxia, Skeletal muscle atrophy, Macroglossia OMIM:268800
Slc35A2-Cdg
Microcephaly, Intrauterine growth retardation, Coxa valga, Abnormality of the hand, Dandy-Walker ... ORPHA:356961
Birk-Barel Syndrome
Short philtrum, Single transverse palmar crease, High palate, Reduced subcutaneous adipose tissue... OMIM:612292
Saethre-Chotzen Syndrome
Narrow palate, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Tripha... ORPHA:794
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Short nose, Globus pallidus calcification, Bulbous nose, Wide nasal bridge, Mild short stature, T... OMIM:620292
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Polycythemia Vera
Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, H... ORPHA:729
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Disproportionate short-limb short stature, Tibial bowing, Abnormal pelvic gi... OMIM:166210
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Cerebral atrophy, Cyanosis, Abnormal basal ganglia morphology, M... ORPHA:391428
Gorlin-Chaudhry-Moss Syndrome
Abnormal foot morphology, Abnormal metacarpal morphology, Oligodontia, Abnormality of the dentiti... ORPHA:2095
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Short nose, Death in childhood, Low insertion of columella, Dental crowding, Anteverted nares, Un... OMIM:619005
Fg Syndrome 5
Short nose, Anteverted nares, Long philtrum, Diastema, Depressed nasal bridge OMIM:300581
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
Dravet Syndrome
Global brain atrophy, Cyanotic episode, Limited knee extension, Progressive gait ataxia, Tibial t... ORPHA:33069
Kabuki Syndrome 2
Postnatal growth retardation, Short columella, Prominent fingertip pads, High palate, Decreased b... OMIM:300867
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Micromelia OMIM:273680
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Cat-Eye Syndrome
Microphthalmia, Anal atresia, Short stature, Hip dysplasia, Intrauterine growth retardation ORPHA:195
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Sandal gap, Anteverted nares, Prominent fingertip pads, High palate, Intraut... OMIM:612863
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia, Abnormal fibula morphology, Narrow palate, Abnormal femur morpho... ORPHA:2063
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Pes cavus, Difficulty walking, Waddling gait, Limb-girdle muscle weakness, Rhabdomyolysis, Macrog... OMIM:251900
Bartsocas-Papas Syndrome 1
Microphthalmia, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly,... OMIM:263650
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Generalized limb muscle atrophy, Pes cavus, ... OMIM:618891
Moebius Syndrome
Aplasia of the pectoralis major muscle, Everted lower lip vermilion, Microdontia, Tooth agenesis,... ORPHA:570
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Retrognathia, Solitary median maxillary central incisor, Dental ... OMIM:301044
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly, Ventricular tachycardia, Dilated ca... OMIM:600649
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Fish-Eye Disease
Angina pectoris, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Fanconi Anemia, Complementation Group R
Microphthalmia, Radial dysplasia, Anal atresia, Microcephaly, Growth delay, Absent thumb, Agenesi... OMIM:617244
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Frontonasal Dysplasia 3
Tessier cleft, Microphthalmia, Cleft palate, Wide nasal bridge, Underdeveloped nasal alae OMIM:613456
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Lower limb asymmetry, Microcephaly, Upper limb asymmetry, Micrognathia, Cleft pal... ORPHA:2505
Lenz-Majewski Hyperostotic Dwarfism
Abnormal finger morphology, Bifid uvula, Symphalangism affecting the phalanges of the hand, Wide ... ORPHA:2658
Multiple Osteochondromas
Intestinal obstruction, Abnormal femur morphology, Limitation of knee mobility, Abnormal lower li... ORPHA:321
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho... OMIM:250220
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Majeed Syndrome
Cachexia, Failure to thrive, Flexion contracture, Weight loss, Metaphyseal irregularity ORPHA:77297
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Diamond-Blackfan Anemia 8
Short nose, Growth delay, Short stature, Thick upper lip vermilion, Wide nasal bridge OMIM:612563
Hypomandibular Faciocranial Dysostosis
Short nose, Anteverted nares, Maxillozygomatic hypoplasia, Narrow mouth, Death in infancy, Bifid ... ORPHA:1790
Mucopolysaccharidosis Type 2
Macrocephaly, Wide nose, Flexion contracture of digit, Otosclerosis, Gingival overgrowth, Temporo... ORPHA:580
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Cebalid Syndrome
Congenital diaphragmatic hernia, Short nose, Polymicrogyria, Anteverted nares, High palate, Depre... OMIM:618774
Dyschondrosteosis-Nephritis Syndrome
Madelung deformity, Ulnar bowing, Mesomelic short stature, Microdontia, Micromelia, Short stature... ORPHA:1765
Rere-Related Neurodevelopmental Syndrome
Hypoplasia of the corpus callosum, Postnatal growth retardation, Microphthalmia, Cerebellar vermi... ORPHA:494344
Poikiloderma With Neutropenia
Retrognathia, Short nose, Palmoplantar keratoderma, Underdeveloped nasal alae, Short stature, Car... OMIM:604173
Ring Chromosome 7 Syndrome
Severe intrauterine growth retardation, Microcephaly, Bifid uvula, Short 5th finger, Short philtr... ORPHA:1449
Faciodigitogenital Syndrome, Autosomal Recessive
Narrow palate, Short nose, Clinodactyly of the 5th finger, Anteverted nares, High palate, Camptod... OMIM:227330
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypoplasia of the corpus callosum, Macrocephaly, Low hanging columella, Polymicrogyria, Anteverte... ORPHA:500159
Exudative Vitreoretinopathy 4
Vitreous hemorrhage, Tractional retinal detachment OMIM:601813
Thyroid Hypoplasia
Growth delay, Jaundice, Macroglossia, Short stature ORPHA:95720
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Inferior cerebellar vermis hypoplasia, Proximal placement of thumb, Anophthalmia,... ORPHA:139471
Treacher-Collins Syndrome
Retrognathia, Microphthalmia, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide mouth... ORPHA:861
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Megalencephaly, Macrocephaly, Aganglionic megacolon, Short philtrum, Mandibular progn... OMIM:613603
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo... ORPHA:536471
X-Linked Intellectual Disability, Cantagrel Type
Hypoplasia of the corpus callosum, Short nose, Short philtrum, Cerebral cortical atrophy, Tented ... ORPHA:85277
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Infantile Krabbe Disease
Increased head circumference, Decreased head circumference, Cachexia, Hypointensity of cerebral w... ORPHA:206436
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Convex nasal ridge, Short nose, Genu valgum, Cleft soft palate, Optic nerve hypoplasia, Microceph... OMIM:619321
Encephalopathy, Ethylmalonic
Focal T2 hyperintense basal ganglia lesion, Petechiae, Death in infancy, Failure to thrive, Ataxi... OMIM:602473
Alpha-Mannosidosis, Adult Form
Cerebral cortical atrophy, Subcortical cerebral atrophy, Ataxia, Macroglossia ORPHA:309288
Gm1-Gangliosidosis, Type Ii
Cerebral atrophy, Gingival overgrowth, Narrow mouth, Gait disturbance, Protruding tongue, Failure... OMIM:230600
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Bradycardia, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly OMIM:614702
Gray Platelet Syndrome
Abnormal bleeding, Abnormal number of alpha granules, Menorrhagia, Thrombocytopenia, Splenomegaly... OMIM:139090
Spondylocarpotarsal Synostosis Syndrome
Short metacarpal, Tarsal synostosis, Bowed humerus, Anteverted nares, Cleft palate, Broad nasal t... OMIM:272460
Tetraamelia-Multiple Malformations Syndrome
Orofacial cleft, Microphthalmia, Narrow mouth, Aplasia/Hypoplasia involving the pelvis, Anal atre... ORPHA:3301
Autosomal Recessive Faciodigitogenital Syndrome
Short nose, Clinodactyly of the 5th finger, Finger syndactyly, Anteverted nares, Open bite, High ... ORPHA:1974
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Cutaneous photosensitivity, Meckel diverticulum, Pyloric stenosis, Carious teeth,... OMIM:616395
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst OMIM:618188
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Abnormal renal physiology, Arrhythmia, Cardiomegaly, Re... OMIM:266500
Isolated Succinate-Coq Reductase Deficiency
Knee flexion contracture, Distal amyotrophy, Proportionate short stature, Skeletal myopathy, Lowe... ORPHA:3208
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormal finger morphology, Oligodactyly, Amelia, Tracheoesophageal fistula, Inte... ORPHA:2538
Hereditary Bullous Dystrophy, Macular Type
Short finger, Microcephaly, Short stature, Growth delay, Acrocyanosis, Tapered finger ORPHA:1867
Williams Syndrome
Everted lower lip vermilion, Tracheoesophageal fistula, Microdontia, Microcephaly, Wide mouth, At... ORPHA:904
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Achondrogenesis Type 2
Delayed pubic bone ossification, Short ribs, Short long bone, Hypoplastic ilia, Micromelia, Short... ORPHA:93296
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Systemic Capillary Leak Syndrome
Myocarditis, Abnormal renal tubule morphology, Pancreatitis, Leukocytosis, Hypotension, Pericardi... ORPHA:188
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:619658
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Juvenile Xanthogranuloma
Hyphema, Myeloproliferative disorder ORPHA:158000
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Rocker bottom foot, Cerebral atrophy, Hypoplasia of the corpus callosum, Short nose, Narrow mouth... OMIM:601353
Microphthalmia, Lenz Type
Orofacial cleft, Microphthalmia, Abnormal shoulder morphology, Clinodactyly of the 5th finger, De... ORPHA:568
Weill-Marchesani Syndrome 2
Narrow palate, Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the... OMIM:608328
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cutaneous photosensitivity, Prematurely aged appearance, Cachexia, Microcephaly, Urticaria, Short... ORPHA:220295
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Thick lower lip vermilion, Mandibular prognathia, Unilateral cleft pa... OMIM:619103
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten... OMIM:613673
Thyroid Hemiagenesis
Growth delay, Jaundice, Macroglossia ORPHA:95719
Congenital Disorder Of Glycosylation, Type Il
Cerebral atrophy, Short nose, Global brain atrophy, Microcephaly, Failure to thrive, Wide mouth, ... OMIM:608776
Microphthalmia, Syndromic 2
Microphthalmia, Sandal gap, Bifid nasal tip, Microcephaly, Bifid uvula, Long philtrum, Phthisis b... OMIM:300166
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Abnormal abdomen morphology... OMIM:216360
Aspartylglucosaminuria
Short nose, Vascular skin abnormality, Mandibular prognathia, Gingival overgrowth, Abnormality of... ORPHA:93
Wolman Disease
Growth delay, Cachexia, Steatorrhea, Esophageal varix ORPHA:75233
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Microphthalmia, Esophageal atresia, Intrauterine growth retardation, Tracheoe... OMIM:614083
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Low hanging columella, Unilateral microphthalmos, Anal atresia, Microce... OMIM:619318
Alg9-Cdg
Atrial septal defect, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Abnormal left ventricul... ORPHA:79328
Cartilage-Hair Hypoplasia
Abnormal hip bone morphology, Disproportionate short-limb short stature, Tibial bowing, Mesomelia... ORPHA:175
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap... OMIM:135750
Marden-Walker Syndrome
Retrognathia, Microcephaly, Arachnodactyly, Bifid uvula, Severe short stature, Intrauterine growt... ORPHA:2461
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Gingival bleeding, Increased mean platelet volume, Menorrhagia, Thrombocytopenia, Sple... OMIM:153670
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Mandibuloacral Dysplasia
Postnatal growth retardation, Abnormal tongue morphology, Abnormally large globe, Dental crowding... ORPHA:2457
Zttk Syndrome
Relative macrocephaly, Bifid uvula, Intrauterine growth retardation, Short philtrum, Abnormality ... OMIM:617140
Traboulsi Syndrome
Convex nasal ridge, Retrognathia, Short finger, Microphthalmia, Cubitus valgus, Wide nose, High p... OMIM:601552
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Proximal tubulopathy, Anemia of inadequate pro... ORPHA:231222
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Postnatal growth retardation, Clinodactyly of the 5th finger, Relative macrocephaly,... ORPHA:397590
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Microcephaly, Wide mouth, Long philtrum, Overlapping toe, Clinodactyly, Short philtrum, Oligodont... OMIM:309590
Osteogenesis Imperfecta, Type X
Genu valgum, Fibular bowing, Rhizomelia, Death in childhood, Tibial bowing, Relative macrocephaly... OMIM:613848
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly OMIM:604757
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS c... ORPHA:75565
Duane Retraction Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Aniridia, Talipes equinovarus, Aplasia/Hypoplasia ... ORPHA:233
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bilateral single transverse palmar creases, Aplasia/hypoplasia of the femur, Retrognathia, Broad ... ORPHA:2636
Lacrimoauriculodentodigital Syndrome 1
Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy... OMIM:149730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the corpus callosum, Retrognathia, Muscular dystrophy, Macrocephaly, Death in child... OMIM:614643
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Clinodactyly of the 5th finger, Decreased body weight, Microcephaly... OMIM:608747
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Retrognathia, Optic nerve hypoplasia, Abnormal periventricular white matter morphology, Microceph... ORPHA:468631
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools OMIM:619868
Atelis Syndrome 2
Microphthalmia, Thick lower lip vermilion, Single transverse palmar crease, High palate, Microcep... OMIM:620185
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Diffuse alveolar hemorrhage, Reduced natura... OMIM:616050
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Abnormal large intestine morphology, Weight loss, Clubbing of toes, Palmopla... ORPHA:2198
Fanconi Anemia, Complementation Group U
Hypoplasia of the radius, Unilateral facial palsy, Absent scaphoid, Aplasia of the 1st metacarpal... OMIM:617247
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Wiedemann-Steiner Syndrome
Postnatal growth retardation, Short nose, Abnormality of the hand, Rhizomelia, Clinodactyly of th... ORPHA:319182
Thanatophoric Dysplasia
Abnormal metaphysis morphology, Macrocephaly, Abnormal ilium morphology, Disproportionate short-l... ORPHA:2655
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short nose, Clinodactyly of the 5th finger, Anteverted nares, Glossoptosis, Biparietal narrowing,... ORPHA:2031
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, Cerebellar hypo... ORPHA:1528
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Cardiofaciocutaneous Syndrome 1
Relative macrocephaly, Deep palmar crease, Anteverted nares, Abnormality of the dentition, Short ... OMIM:115150
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Hypotension... ORPHA:549
Branchioskeletogenital Syndrome
Thin vermilion border, Short philtrum, Periorbital wrinkles, Rootless teeth, Mandibular prognathi... ORPHA:1299
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Retrognathia, Dental crowding, Short metacarpal, Microcephaly, Long philtrum, Short distal phalan... OMIM:617157
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef... OMIM:192445
Hydrolethalus Syndrome 1
Stillbirth, Midline defect of the nose, Abnormal cortical gyration, Microphthalmia, Anencephaly, ... OMIM:236680
Brain Malformations With Or Without Urinary Tract Defects
Hypoplasia of the corpus callosum, Short nose, Macrocephaly, Anteverted nares, Narrow mouth, Fail... OMIM:613735
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Hypoplasia of the radius, Microphthalmia, Anal atresia, Microcephal... OMIM:610832
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Cerebral ... ORPHA:1422
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Optic disc drusen, Macula... OMIM:264800
Viss Syndrome
Rocker bottom foot, Retrognathia, Microcephaly, Arachnodactyly, Intestinal malrotation, Bifid uvu... OMIM:619472
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebral atrophy, Hypoplasia of the corpus callosum, Long nose, Short nose, Slender long bone, Ce... OMIM:618590
Down Syndrome
Aganglionic megacolon, Sandal gap, Hypoplastic iliac wing, Single transverse palmar crease, Short... OMIM:190685
Barber-Say Syndrome
Thin vermilion border, Widely spaced teeth, Clinodactyly of the 5th finger, Premature skin wrinkl... OMIM:209885
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Epiphyseal stippling, Severe postnatal growth retardation, High palate, Lower lim... ORPHA:35173
Crouzon Syndrome
Convex nasal ridge, Narrow palate, Choanal atresia, Hypoplasia of the maxilla, Cerebellar hypoplasia ORPHA:207
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat... OMIM:616828
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Microcephaly, Macroglossia, Short stature, Growth delay ORPHA:93947
Vertebral Hypersegmentation And Orofacial Anomalies
Anteverted nares, Scapular winging, Unilateral cleft palate, Micrognathia, Unilateral cleft lip, ... OMIM:619122
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Congestive heart failure, Splenomegaly, Tachycardia, Abnormal urinar... ORPHA:90037
Jacobsen Syndrome
Short nose, Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Anteverted nares, Missi... OMIM:147791
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate ORPHA:2476
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Abnormal optic disc morphology, Rhegmatogenous retinal detachment, Tracti... ORPHA:891
Juvenile Huntington Disease
Neuronal loss in basal ganglia, Progressive cerebellar ataxia, Broad-based gait, Gait ataxia, Ata... ORPHA:248111
21Q22.11Q22.12 Microdeletion Syndrome
Postnatal growth retardation, Thick lower lip vermilion, Cone-shaped epiphyses of the phalanges o... ORPHA:261323
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg... ORPHA:116
Cardiofaciocutaneous Syndrome
Short nose, Genu valgum, Macrocephaly, Palmoplantar keratoderma, Excessive wrinkled skin, Deep pa... ORPHA:1340
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Cyanosis, Recurrent upper respiratory tract infections OMIM:263000
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly OMIM:214900
Aicardi-Goutieres Syndrome 1
Cerebral atrophy, Purpura, Deep white matter hypodensities, Inability to walk, Petechiae, Progres... OMIM:225750
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Death in early adulthood, Ragged-red muscle fibers, Cachexia, Dist... OMIM:603041
Wolcott-Rallison Syndrome
Hepatomegaly, Jaundice, Iron deficiency anemia, Lymphocytosis, Ascites, Exocrine pancreatic insuf... ORPHA:1667
Diamond-Blackfan Anemia 1
Retrognathia, Hypoplastic coccygeal vertebrae, Microcephaly, Absent thumb, Hypoplastic sacral ver... OMIM:105650
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Cachexia, Abnormal gastric mucosa morphology, Spontaneous esophage... ORPHA:1876
Denys-Drash Syndrome
Enlarged kidney, Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse me... OMIM:194080
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Premature ventricular contraction, Bicuspid aortic valv... OMIM:300855
Developmental And Epileptic Encephalopathy 1
Global brain atrophy, Microphthalmia, Microcephaly, Growth delay, Choreoathetosis OMIM:308350
Retinoblastoma
Retinal calcification, Subretinal pigment epithelium hemorrhage, Hyphema, Abnormality of retinal ... ORPHA:790
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Short ri... OMIM:617866
Hutchinson-Gilford Progeria Syndrome
Retrognathia, Abnormal nasal tip morphology, Dental crowding, Narrow nasal ridge, Relative macroc... ORPHA:740
Waardenburg Syndrome Type 1
Premature graying of hair, Short nose, Aganglionic megacolon, Mandibular prognathia, Cleft upper ... ORPHA:894
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Microphthalmia, Death in infancy, Neonatal death, Cerebellar hypoplasia OMIM:613730
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Delayed puberty, Proximal tibial and fibular fusion, Femoral bowing, Short me... ORPHA:95699
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Cardiomegaly, Splenic cyst, Retinal detachment, Patent foramen ovale, Retinal hemor... OMIM:620371
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita OMIM:601809
Coffin-Siris Syndrome
Wide nasal base, Microcephaly, Wide mouth, Broad philtrum, Intrauterine growth retardation, Short... ORPHA:1465
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Short nose, Aganglionic megacolon, Interphalangeal thumb joint contracture, Prominent nasal bridg... OMIM:613870
Cowden Syndrome
Macrocephaly, Colorectal polyposis, High palate, Furrowed tongue, Hamartomatous polyposis, Short ... ORPHA:201
Chromosome 16P13.3 Duplication Syndrome
Rocker bottom foot, Proximal placement of thumb, Sandal gap, Microdontia, Bifid uvula, Wide mouth... OMIM:613458
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy... ORPHA:39041
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly OMIM:609981
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Nephronophthisis, Cholestasis, Retinal degeneration, Splenomegaly, Chronic kidney d... OMIM:615630
9Q21.13 Microdeletion Syndrome
Polydactyly, Postnatal growth retardation, Difficulty walking, Talipes, Abnormal tongue morpholog... ORPHA:531151
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Microphthalmia, Rhizomelia, Flared metaphysis, Metaphyseal spurs, S... ORPHA:85167
Monosomy 9P
Congenital diaphragmatic hernia, Short nose, Microphthalmia, Bilateral single transverse palmar c... ORPHA:261112
Skin Creases, Congenital Symmetric Circumferential, 2
Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, 2-3 toe syndac... OMIM:616734
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Nanophthalmos
Microphthalmia ORPHA:35612
Shprintzen-Goldberg Syndrome
Abnormal metaphysis morphology, Retrognathia, High, narrow palate, Genu valgum, Anteverted nares,... ORPHA:2462
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Postnatal growth retardation, Thin vermilion border, Sandal gap, Single transverse palmar crease,... OMIM:614800
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, Tooth agenesis, Microcephaly, Mesom... ORPHA:818
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ... OMIM:184253
Au-Kline Syndrome
Retrognathia, Deep plantar creases, Bifid nasal tip, Bifid uvula, Overlapping toe, Coxa valga, De... OMIM:616580
Lathosterolosis
2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Short nose, Anteverted nares, Promine... OMIM:607330
Ayme-Gripp Syndrome
Cerebral atrophy, Long philtrum, Short nose, Mandibular prognathia, Narrow mouth, Abnormality of ... OMIM:601088
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Fanconi Anemia, Complementation Group F
Hypoplasia of the radius, Microphthalmia, Microcephaly, Failure to thrive, Short stature, Absent ... OMIM:603467
Cutis Laxa, Autosomal Recessive, Type Iic
Dental crowding, Long philtrum, Overlapping toe, Anteverted nares, Camptodactyly, Short stature, ... OMIM:617402
Saethre-Chotzen Syndrome
Narrow palate, Long nose, Convex nasal ridge, Clinodactyly of the 5th finger, Buphthalmos, Absent... OMIM:101400
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Short nose, Micrognathia, Ataxia, Unsteady gait OMIM:256600
Trisomy 8P
Clinodactyly of the 5th toe, Retrognathia, Clinodactyly of the 2nd finger, Microcephaly, Bifid uv... ORPHA:264450
Cinca Syndrome
Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Sp... ORPHA:1451
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormal epiphysis morphology, Proportionate short stature, Micromelia ORPHA:93283
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, Short nose, Anteverted nares, High palate, Micrognathia, Tented upper lip vermilion,... ORPHA:314655
Fryns Syndrome
Rocker bottom foot, Microphthalmia, Proximal placement of thumb, Meckel diverticulum, Prominent f... OMIM:229850
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple... OMIM:602450
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema, Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:221900
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Intracrani... ORPHA:85212
Trisomy 20P
Abnormal palate morphology, Thin vermilion border, Abnormal foot morphology, Talipes, Abnormal hi... ORPHA:261318
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Abnormal palate morphology, Microphthalmia, Bilateral single transverse palmar cre... ORPHA:1236
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Microphthalmia, Radial deviation of finger, Proximal placement o... OMIM:613406
Hypothyroidism Due To Tsh Receptor Mutations
Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Macroglossia, Pr... ORPHA:90673
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization, Genu valgum, Fibular bowing, Cupped metaphyses of hand bones, Tibial b... OMIM:307800
Cowden Syndrome 5
High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypoplasia of the maxilla, M... OMIM:615108
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Micromelia, Microcephaly, Intrauterine growth retardat... ORPHA:2772
Vitreoretinochoroidopathy
Retinal detachment, Vitreous hemorrhage, Retinal neovascularization, Pigmentary retinopathy OMIM:193220
Meckel Syndrome, Type 9
Limb undergrowth, Talipes equinovarus OMIM:614209
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Clinodactyly of the 5th finger, Palmoplantar keratoderma, Delayed eruption o... ORPHA:1071
Aicardi Syndrome
Delayed puberty, Microphthalmia, Intestinal polyposis, Short philtrum, Polymicrogyria, Missing ri... ORPHA:50
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Plantar pits, Macrocephaly, Microphthalmia, Palmar pits, Odont... OMIM:109400
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Thauvin-Robinet-Faivre Syndrome
Large for gestational age, Long foot, Macrocephaly, Long hallux, Large hands, Thick vermilion bor... OMIM:617107
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Short nose, Clinodactyly of the 5th finger, Proximal placement... OMIM:618619
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Leukocytosis, Acute myeloid leukemia ORPHA:98827
Renpenning Syndrome 1
Narrow foot, Microphthalmia, Microcephaly, Short philtrum, Camptodactyly, Short stature, Cleft pa... OMIM:309500
Timothy Syndrome
Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Pulmonary arterial hypert... OMIM:601005
Adams-Oliver Syndrome
Periventricular leukomalacia, Microphthalmia, Talipes, Abnormal metacarpal morphology, Finger syn... ORPHA:974
Craniofacial-Deafness-Hand Syndrome
Short nose, Hypoplasia of the maxilla, Ulnar deviation of the hand, Malar flattening, Narrow nari... OMIM:122880
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Absent nares, Single naris, Tooth malposition, Hyposmia, Anophthalmia, Anosmia, B... ORPHA:2250
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Keppen-Lubinsky Syndrome
Postnatal growth retardation, Premature skin wrinkling, Short philtrum, Narrow nasal bridge, Abno... ORPHA:435628
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Type II lissencephaly, Microphthalmia, Muscular dystrophy OMIM:614830
Fryns Microphthalmia Syndrome
Tessier cleft, Microphthalmia, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip OMIM:600776
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Triphalangeal thumb, Cleft soft palate, Abnormality of the up... ORPHA:124
Holoprosencephaly-Postaxial Polydactyly Syndrome
Orofacial cleft, Microphthalmia, Absent nares, Talipes, Postaxial hand polydactyly, Narrow mouth,... ORPHA:2166
Campomelia, Cumming Type
Prematurely aged appearance, Abnormal intestine morphology, Bowing of the long bones, Micromelia,... ORPHA:1318
Hypophosphatasia, Infantile
Stillbirth, Disproportionate short-limb short stature, Metaphyseal cupping, Short ribs, Abnormali... OMIM:241500
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Monosomy 9Q22.3
Polydactyly, Orofacial cleft, Rhabdomyosarcoma, Macrocephaly, Large for gestational age, Short no... ORPHA:77301
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Retrognathia, Short nose, Clinodactyly of the 5th finger, Esophageal atresia, T... OMIM:301030
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Microdontia, Arachnodactyly, Slender long bones with narrow diaphyses, Dentinogenesis imperfecta,... ORPHA:536467
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Acromegaly
Macrodactyly, Deep plantar creases, Cortical diaphyseal thickening of the upper limbs, Thick lowe... ORPHA:963
Catel-Manzke Syndrome
Low insertion of columella, Glossoptosis, Short metacarpal, Ulnar deviation of the 2nd finger, Sh... OMIM:616145
Alagille Syndrome 1
Hypoplasia of the ulna, Long nose, Failure to thrive, Prolonged neonatal jaundice, Short distal p... OMIM:118450
Somatomammotropinoma
Macrodactyly, Deep plantar creases, Cortical diaphyseal thickening of the upper limbs, Thick lowe... ORPHA:314769
Huntington Disease
Cerebral atrophy, Decreased body mass index, Difficulty walking, Gait imbalance, Inability to wal... ORPHA:399
Rodrigues Blindness
Microphthalmia, Narrow nasal bridge, Tooth malposition, Ectodermal dysplasia, Short stature OMIM:268320
Difference Of Sex Development-Intellectual Disability Syndrome
Thin vermilion border, Short nose, Genu valgum, Short philtrum, Downturned corners of mouth ORPHA:2983
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Cirrhosis, Hepatomegaly, Abnormal bleeding, Unilateral renal agenesis, Pancytopeni... OMIM:614576
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Reduced left ventricular eje... OMIM:201475
Refsum Disease
Pes cavus, Microphthalmia, Abnormal foot morphology, Hammertoe, Short metacarpal, Anosmia, Ataxia... ORPHA:773
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Abnormal bleeding, Bili... ORPHA:77259
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Pulmonary arterial... OMIM:619051
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Pelviscapular Dysplasia
Macrocephaly, Elbow flexion contracture, Abnormality of the joint spaces of the elbow, Hypoplasti... ORPHA:93333
Aicardi Syndrome
Postnatal growth retardation, Microphthalmia, Proximal placement of thumb, Cavum septum pellucidu... OMIM:304050
Frontofacionasal Dysplasia
Orofacial cleft, Midline defect of the nose, Short nose, Microphthalmia, Hypoplasia of the fronta... OMIM:229400
Marfan Syndrome
Retrognathia, High, narrow palate, Abnormal zygomatic bone morphology, Limited elbow movement, De... ORPHA:558
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Syndactyly, Absent verteb... OMIM:134780
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Curry-Jones Syndrome
Microphthalmia, Finger syndactyly, Broad thumb, Foot polydactyly, Intestinal malrotation, Abnorma... ORPHA:1553
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Pulmonary arterial hypertension, Pulmonic s... OMIM:602782
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Widely spaced teeth, Palmoplantar keratoderma, Bilateral choanal atresia, Conical tooth, 2-3 toe ... OMIM:106260
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Monosomy 13Q14
Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypopl... ORPHA:1587
Microphthalmia, Syndromic 11
Microphthalmia, Cleft upper lip, Cleft palate, Agenesis of corpus callosum, Agenesis of pineal gland OMIM:614402
Exudative Vitreoretinopathy 1
Retinal detachment, Retinal neovascularization, Vitreous hemorrhage OMIM:133780
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Abnormal ... ORPHA:3261
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Microphthalmia, Short ribs, Tooth agenesis, Split foot, Hypoplas... ORPHA:2092
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Transaldolase Deficiency
Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Patent foramen ovale, Hepato... OMIM:606003
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Portal vein thro... OMIM:616028
Cowden Syndrome 6
High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hypoplasia of the maxilla, M... OMIM:615109
Melkersson-Rosenthal Syndrome
Cheilitis, Macroglossia, Facial palsy, Furrowed tongue ORPHA:2483
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Midclavicular aplasia, Microphthalmia, Aniridia, Short ribs, Sho... OMIM:305600
Hirschsprung Disease
Intestinal obstruction, Aganglionic megacolon, Intestinal polyposis, Short stature, Failure to th... ORPHA:388
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia, Broad thumb, Microcephaly, Long philtrum, Short 5th finge... ORPHA:508498
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Telangiectasia of the skin, Enlarged kidney ORPHA:276280
Helsmoortel-Van Der Aa Syndrome
Sandal gap, Prominent fingertip pads, Everted lower lip vermilion, Microdontia, Short lower limbs... OMIM:615873
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bilateral single transverse palmar creases, Retrognathia, Long nose, Clinodactyly of the 5th fing... ORPHA:3047
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Cardiac arrest, Epistaxis, Splenomegaly, Arrhythmia ORPHA:99745
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Vacterl With Hydrocephalus
Hypoplasia of the radius, Retrognathia, Microphthalmia, Esophageal atresia, Anophthalmia, Tracheo... ORPHA:3412
Mosaic Trisomy 16
Abnormality of the nose, Small for gestational age, Meckel diverticulum, Single transverse palmar... ORPHA:1708
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Ethylmalonic Encephalopathy
Abnormal basal ganglia MRI signal intensity, Petechiae, Failure to thrive, Ataxia, Acrocyanosis ORPHA:51188
Holoprosencephaly
Congenital diaphragmatic hernia, Microphthalmia, Solitary median maxillary central incisor, Anosm... ORPHA:2162
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Hepatomegaly, Anemia, Lymphadenopathy, Vesicoureteral reflux, Cholestas... OMIM:615895
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Broad alveolar ridges, Microcephaly, Syndactyly, Intrauterine growth retardation,... OMIM:616975
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Joubert Syndrome 2
Microphthalmia, Macrocephaly, Abnormal foot morphology, Abnormal corpus callosum morphology, Post... OMIM:608091
Choanal Atresia
Polydactyly, Cyanosis, Nasal congestion, Chronic sinusitis ORPHA:137914
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Splenomegaly, Hepatomegaly ORPHA:75234
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Muscular dystrophy, Microphthalmia, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria... OMIM:615181
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Optic nerve hypoplasia, Secundum atrial septal defect, Severely reduced... OMIM:620609
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia, Prominent fingertip pads, Microdontia, Broad thumb, Microcephaly, Bifid uvula, Lo... OMIM:612474
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Chronic lymphatic leukemia, Sple... ORPHA:90033
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Velocardiofacial Syndrome
Retrognathia, Abnormality of the hand, Talipes, Microcephaly, Short stature, Velopharyngeal insuf... OMIM:192430
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites... OMIM:265300
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection fra... ORPHA:1677
Peters-Plus Syndrome
Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Disproportionate short-l... OMIM:261540
Al Amyloidosis
Abnormal salivary gland morphology, Weight loss, Bruising susceptibility, Macroglossia, Xerostomia ORPHA:85443
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Desmoplastic Small Round Cell Tumor
Cachexia, Ileus, Weight loss ORPHA:83469
Geleophysic Dysplasia 2
Tip-toe gait, Short nose, Cone-shaped epiphysis, Short stature, Short palm, Smooth philtrum, Long... OMIM:614185
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Orofacial cleft, Tessier cleft, Microphthalmia, Tracheoesophagea... ORPHA:268249
Infantile Systemic Hyalinosis
Steatorrhea, Macrocephaly, Gingival overgrowth, Micromelia, Abnormal dental morphology, Camptodac... ORPHA:2176
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Muckle-Wells Syndrome
Optic atrophy, Hepatomegaly, Anemia, Vasculitis, Nephrotic syndrome, Splenomegaly, Renal amyloido... ORPHA:575
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Arachnodactyly, Micrognathia, Short nose ORPHA:1129
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Esophageal atresia, Wide nose, Choanal atresia, Tracheoesophageal fistula, Microcep... OMIM:619227
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Laryngotracheoesophageal Cleft Type 4
Cachexia, Intestinal atresia, Tracheoesophageal fistula ORPHA:93941
Caroli Syndrome
Hematemesis, Leukopenia, Abnormal intrahepatic bile duct morphology, Abnormality of the kidney, A... ORPHA:480520
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Hypoplasia of the corpus callosum, Short nose, Absent cupid's bow, Choanal atresia, Celiac diseas... ORPHA:284169
Idiopathic Achalasia
Weight loss ORPHA:930
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... OMIM:601214
Spondyloepimetaphyseal Dysplasia, Shohat Type
Fibular overgrowth, Disproportionate short stature, Flared metaphysis, Delayed epiphyseal ossific... ORPHA:93352
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Muscular dystrophy, Microphthalmia, Abnormally large globe, Lissencephaly, Progressive microcepha... OMIM:615249
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Jacobsen Syndrome
Death in infancy, Intestinal malrotation, Abnormality of the anus, Long philtrum, Intrauterine gr... ORPHA:2308
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno... ORPHA:381
Breath-Holding Spells
Cyanosis OMIM:607578
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Macrocephaly at birth, Flexion contracture of toe, Wide mouth, Proximal muscle weakness in lower ... ORPHA:280633
Geleophysic Dysplasia 1
Joint contracture of the hand, Cone-shaped epiphysis, Short nose, Anteverted nares, Short long bo... OMIM:231050
Musculocontractural Ehlers-Danlos Syndrome
Short nose, Subcutaneous hemorrhage, Tapered finger, High palate, Narrow mouth, Slender finger, D... ORPHA:2953
Restrictive Dermopathy 1
Rocker bottom foot, Narrow nasal ridge, Temporomandibular joint ankylosis, Overtubulated long bon... OMIM:275210
Coxoauricular Syndrome
Abnormal femur morphology, Abnormal pelvic girdle bone morphology, Micromelia, Short stature, Hip... ORPHA:1508
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Purpura, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenop... ORPHA:540
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Atrial arrhythmia, Myocar... OMIM:300257
Cornelia De Lange Syndrome 6
Hypoplasia of the corpus callosum, Short nose, Clinodactyly of the 5th finger, Anteverted nares, ... OMIM:620568
Ctcf-Related Neurodevelopmental Disorder
Sandal gap, Joint contracture of the 5th finger, Prominent fingertip pads, Microdontia, Microceph... ORPHA:363611
Scrub Typhus
Myocarditis, Abnormal bleeding, Lymphadenopathy, Hypotension, Splenomegaly, Renal insufficiency ORPHA:83317
Khan-Khan-Katsanis Syndrome
Short nose, Triangular mouth, Cerebellar vermis hypoplasia, Postaxial polydactyly, Microcephaly, ... OMIM:618460
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Isaacs Syndrome
Calf muscle hypertrophy, Weight loss ORPHA:84142
Nivelon-Nivelon-Mabille Syndrome
Thin corpus callosum, Cerebellar vermis hypoplasia, Short metacarpal, Micromelia, Microcephaly, S... OMIM:600092
Aspartylglucosaminuria
Cerebral atrophy, Angiokeratoma corporis diffusum, Thick lower lip vermilion, Anteverted nares, H... OMIM:208400
Thanatophoric Dysplasia Type 2
Abnormal metaphysis morphology, Macrocephaly, Micromelia, Short stature, Brachydactyly, Depressed... ORPHA:93274
Nanophthalmos 4
Microphthalmia OMIM:615972
Macrocephaly/Autism Syndrome
Large for gestational age, Postnatal macrocephaly, Short nose, High palate, Biparietal narrowing,... OMIM:605309
Singleton-Merten Syndrome 1
Eruption failure, Short dental root, Expanded phalanges with widened medullary cavities, Coxa val... OMIM:182250
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Pe... ORPHA:829
Congenital Enterovirus Infection
Myocarditis, Abnormal bleeding, Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis... ORPHA:292
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Orofacial cleft, Microphthalmia, Polymicrogyria, Intestinal malrotati... ORPHA:2328
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Lisse... OMIM:218670
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Mixed Connective Tissue Disease
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa... ORPHA:809
Undifferentiated Pleomorphic Sarcoma
Abnormality of the lower limb, Abnormality of the upper limb, Weight loss ORPHA:2023
Lethal Omphalocele-Cleft Palate Syndrome
Retrognathia, Cleft soft palate, Bifid uvula, Unilateral cleft lip, Cleft palate ORPHA:2736
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Partial anosmia, Midgut malrotation, Short lingual frenulum, Total anosmia, Shor... ORPHA:2326
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Microdontia, H... OMIM:601499
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Prolonged neonatal jaundice, Bifid uvula, Broad philtrum, Intrauterine growth ret... OMIM:620186
Treacher Collins Syndrome 1
Bilateral microphthalmos, Cleft soft palate, Narrow mouth, Choanal atresia, Micrognathia, Cleft p... OMIM:154500
Distal Deletion 15Q
Congenital diaphragmatic hernia, Microcephaly, Intrauterine growth retardation, Short distal phal... ORPHA:1596
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Distal Deletion 9P
Short nose, High, narrow palate, Abnormality of the dentition, Cleft palate, Brachydactyly, Wide ... ORPHA:1642
Surfactant Metabolism Dysfunction, Pulmonary, 1
Clubbing, Death in infancy, Failure to thrive, Neonatal death, Cyanosis OMIM:265120
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged... OMIM:257200
Renal And Mullerian Duct Hypoplasia
Severe postnatal growth retardation, Short nose, Micrognathia OMIM:266810
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Rhabdomyosarcoma, Microphthalmia, Clinodactyly of the 5th finger, Intestinal ... ORPHA:1052
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated jugular venous pressure, Hepatocellul... ORPHA:465508
Thrombocytopenia 2
Abnormal platelet shape, Leukocytosis, Thrombocytopenia, Bruising susceptibility, Abnormal platel... OMIM:188000
Arterial Tortuosity Syndrome
Rocker bottom foot, Short nose, Abnormal zygomatic bone morphology, Clinodactyly of the 5th finge... ORPHA:3342
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A... OMIM:612783
Uveal Melanoma
Retinal detachment, Vitreous hemorrhage ORPHA:39044
Gapo Syndrome
Short nose, High, narrow palate, Thick lower lip vermilion, Wide anterior fontanel, Eruption fail... OMIM:230740
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Internally rotated shoulders, Agenesis of permanent teeth, Wide mouth, Tip-toe g... OMIM:619503
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Abnormal lymphocyte mo... ORPHA:47612
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Heart block, Renal insuff... ORPHA:228308
Cadds
Intrauterine growth retardation, Short nose, Micrognathia, Abnormal cerebral white matter morphology ORPHA:369942
Incontinentia Pigmenti
Orofacial cleft, Microphthalmia, Delayed eruption of teeth, Finger syndactyly, Abnormal dental en... ORPHA:464
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Hematuria, Retinal hemorrhage, Vasculitis in the skin, Proteinuria, ... OMIM:192315
Meckel Syndrome
Microphthalmia, Talipes, Anencephaly, Anophthalmia, Dandy-Walker malformation, Aplasia/Hypoplasia... ORPHA:564
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Proteus Syndrome
Macrodactyly, Cachexia, Abnormal finger morphology, Tooth agenesis, Upper limb asymmetry, Hip dis... ORPHA:744
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Cerebrofaciothoracic Dysplasia
Hypoplasia of the corpus callosum, Short nose, Macrocephaly, Wide nose, Cerebellar vermis hypopla... ORPHA:1394
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart... ORPHA:36412
Camptodactyly Syndrome, Guadalajara Type 3
Retrognathia, Wide nasal base, Depressed nasal tip, Broad femoral neck, Sternocleidomastoid amyot... ORPHA:488434
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Leukocytosis, Ce... ORPHA:90065
Autosomal Dominant Kenny-Caffey Syndrome
Postnatal growth retardation, Postnatal macrocephaly, Bilateral microphthalmos, Calvarial osteosc... ORPHA:93325
Triokinase And Fmn Cyclase Deficiency Syndrome
Cerebellar hypoplasia, Microphthalmia, Failure to thrive in infancy, Broad-based gait OMIM:618805
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
American Trypanosomiasis
Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegal... ORPHA:3386
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Chromosome 13Q14 Deletion Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, Single transve... OMIM:613884
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hypoplasia of the corpus callosum, Pes cavus, Limb ataxia, Delayed puberty, Broad-based gait, Cac... ORPHA:2072
Glycogen Storage Disease Ii
Hepatomegaly, Urinary incontinence, Wolff-Parkinson-White syndrome, Right axis deviation, Sinus t... OMIM:232300
Ivic Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Rectovaginal fistula, Synostosis of carpal bones, ... ORPHA:2307
Cowden Syndrome 1
High palate, Furrowed tongue, Hemimegalencephaly, Hamartomatous polyposis, Hypoplasia of the maxi... OMIM:158350
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation... OMIM:602347
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Dermotrichic Syndrome
Short nose, Aganglionic megacolon, Depressed nasal bridge, Proportionate short stature ORPHA:99688
Oromandibular Dystonia
Abnormality of the nose, Abnormality of the temporomandibular joint, Torticollis, Abnormal mandib... ORPHA:93958
Spondylo-Ocular Syndrome
Thin vermilion border, Microphthalmia, Facial hypotonia, Aplasia/Hypoplasia of the lens, Short st... ORPHA:85194
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Difficulty in tongue movements, Facial hypotonia, Multifocal hyperintensity of cerebral white mat... ORPHA:308552
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy... OMIM:618278
Ellis Van Creveld Syndrome
Intrauterine growth retardation, Thin vermilion border, Neonatal short-limb short stature, Genu v... ORPHA:289
Mitochondrial Complex I Deficiency, Nuclear Type 1
Focal T2 hypointense basal ganglia lesion, Focal T2 hyperintense basal ganglia lesion, Ragged-red... OMIM:252010
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r... ORPHA:324410
Wrinkly Skin Syndrome
Deep plantar creases, Progressive microcephaly, Thick cerebral cortex, Slender long bones with na... ORPHA:2834
Bent Bone Dysplasia Syndrome 2
Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Rela... OMIM:620076
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft palate, Microphthalmia ORPHA:1473
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Dental crowding, Arachnodactyly, Bifid uvula, Syndactyly, Adducted thumb, Long to... ORPHA:261537
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Aortic valve at... ORPHA:1457
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Urachal cyst, Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, ... OMIM:608203
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the corpus callosum, Muscular dystrophy, Microphthalmia, Buphthalmos, Optic nerve h... OMIM:236670
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Angina pectoris, Vacuolated lymphocytes, Low-output congestive heart ... ORPHA:565612
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Splenomegaly OMIM:228000
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal... OMIM:616084
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Rest... ORPHA:758
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Meckel Syndrome, Type 1
Microphthalmia, Radial deviation of finger, Anencephaly, Microcephaly, Intestinal malrotation, Wi... OMIM:249000
Esophageal Atresia
Barrett esophagus, Esophagitis, Tracheoesophageal fistula, Choanal atresia, Intestinal malrotatio... ORPHA:1199
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Broad alveolar ridges, Dental crowding, Death in infancy, Microcepha... OMIM:270400
Whipple Disease
Myositis, Cachexia, Ataxia, Pedal edema ORPHA:3452
Wiedemann-Rautenstrauch Syndrome
Retrognathia, Relative macrocephaly, Severe intrauterine growth retardation, Short humerus, Hypop... ORPHA:3455
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time, Hepatomegaly, Intrahepatic cholestasis, Cardiomegaly, Increased hepat... OMIM:614921
Deeah Syndrome
Narrow palate, Retrognathia, Short nose, Death in childhood, Short philtrum, Prominent nasal tip,... OMIM:619004
Buratti-Harel Syndrome
Clinodactyly of the 5th finger, High palate, Broad thumb, Velopharyngeal insufficiency, Bifid uvu... OMIM:619314
Macrophage Activation Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro... ORPHA:158061
Spondyloepimetaphyseal Dysplasia, Krakow Type
Clinodactyly of the 5th finger, Rhizomelia, Knee flexion contracture, Delayed pubic bone ossifica... OMIM:618162
Toriello-Lacassie-Droste Syndrome
Short nose, Macrocephaly, Aganglionic megacolon, Anteverted nares, Growth delay, Short palm, Fail... ORPHA:3339
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate, Lip pit ORPHA:1072
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Long philtrum, High, narrow palate, Aniridia, Anophthalmia, Hypoplasia of the musculature, Mandib... ORPHA:1101
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Purpura, Myositis, Gait disturbance, Nasal polyposis, Sinusitis, Urticari... ORPHA:183
Gm1-Gangliosidosis, Type I
Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Abnormal heart valve morphology, ... OMIM:230500
Familial Thrombocytosis
Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonar... ORPHA:71493
Fanconi Anemia, Complementation Group E
Microphthalmia, Microcephaly, Short stature, Complete duplication of thumb phalanx, Absent thumb,... OMIM:600901
Spondyloenchondrodysplasia
Delayed eruption of teeth, Cerebral calcification, Hypoplastic ilia, Abnormal periventricular whi... ORPHA:1855
Combined Oxidative Phosphorylation Defect Type 23
Abnormal basal ganglia MRI signal intensity, Failure to thrive, Right ventricular hypertrophy, Le... ORPHA:444013
Mandibuloacral Dysplasia With Type A Lipodystrophy
Postnatal growth retardation, Calcinosis, Dental crowding, Premature loss of teeth, Osteolytic de... OMIM:248370
Floating-Harbor Syndrome
Long nose, Dislocated radial head, Short metacarpal, Microdontia, Wide mouth, Clinodactyly, Short... ORPHA:2044
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Arrhythmia, Cardiomegaly, Hepatic st... OMIM:255120
Chediak-Higashi Syndrome
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Spontaneous, recurrent epistax... OMIM:214500
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Microphthalmia, Optic nerve hypoplasia, Microlissencephaly, Sm... OMIM:617914
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Microcephaly, Cyanosis, Growth delay OMIM:250800
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, 11 pairs of ribs, Severe postnatal growth retardation, Microdontia, Depressed nas... OMIM:620005
Cat Eye Syndrome
Rectal fistula, Anal stenosis, Microphthalmia, Meckel diverticulum, Anal atresia, Intestinal malr... OMIM:115470
Holoprosencephaly 13, X-Linked
Solitary median maxillary central incisor, Optic nerve hypoplasia, Septo-optic dysplasia, Median ... OMIM:301043
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia OMIM:618394
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Macular degeneration, Geographic atrophy OMIM:603075
Ventriculomegaly With Defects Of The Radius And Kidney
Absent radius, Bowed forearm bones, Absent thumb, Forearm undergrowth OMIM:602200
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Ascites, Portal hypertension, Spl... ORPHA:131
Aymé-Gripp Syndrome
Rocker bottom foot, Hypoplasia of the corpus callosum, Congenital diaphragmatic hernia, Short nos... ORPHA:1272
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Candidiasis, Familial, 8
Cheilitis, Macroglossia OMIM:615527
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Growth delay, Aphthous ulcer, Inflammation... OMIM:266600
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Narrow nasal base, Cleft ala nasi, Wide nose, Mandibular prognathia, Hypoplasia of the maxilla, E... ORPHA:3044
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Curry-Jones Syndrome
Microphthalmia, Megalencephaly, Anal stenosis, Intestinal pseudo-obstruction, Polymicrogyria, Tri... OMIM:601707
Multiple Mitochondrial Dysfunctions Syndrome 7
Secondary microcephaly, Hypoplasia of the corpus callosum, Thin corpus callosum, Anteverted nares... OMIM:620423
Huntington Disease-Like 1
Abnormal shoulder morphology, Abnormal basal ganglia morphology, Gait disturbance, Gait ataxia, C... ORPHA:157941
Microphthalmia, Syndromic 6
Retrognathia, Microphthalmia, Inferior cerebellar vermis hypoplasia, Microcephaly, Bifid uvula, P... OMIM:607932
Mowat-Wilson Syndrome
Microphthalmia, Focal white matter lesions, Dental crowding, Everted lower lip vermilion, Microce... ORPHA:2152
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Bile Acid Synthesis Defect, Congenital, 3
Prolonged prothrombin time, Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic ... OMIM:613812
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate, Abnormal caudate nucleus morphology, Caudate at... ORPHA:209908
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, C... OMIM:617713
Cog1-Cdg
Postnatal growth retardation, Rhizomelia, Cerebellar vermis hypoplasia, Progressive microcephaly,... ORPHA:263508
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short nose, Epiphyseal stippling, Ecchymosis, Epistaxis, Short distal phalanx of finger, Bruising... OMIM:277450
Pelvis-Shoulder Dysplasia
Microphthalmia, Clinodactyly of the 5th finger, Hypoplastic acetabulae, Short clavicles, Hypoplas... OMIM:169550
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:3162
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Clubbing, Weight loss, Cyanosis ORPHA:747
Pseudotrisomy 13 Syndrome
Microphthalmia, 11 pairs of ribs, Polymicrogyria, 2-3 toe syndactyly, Postaxial hand polydactyly,... OMIM:264480
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Cerebellar vermis hypoplasia, Polymicrogyria, Failure to thrive, Depressed nasal ... OMIM:612379
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Neonatal death, Finger aplasia OMIM:276822
Chiari Malformation Type Ii
Cyanosis, Ataxia, Agenesis of corpus callosum, Limb muscle weakness OMIM:207950
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis, Weight loss ORPHA:1302
Fraser Syndrome
Microphthalmia, Dental crowding, Death in infancy, Microcephaly, Cleft ala nasi, Toe syndactyly, ... ORPHA:2052
Asbestos Intoxication
Hypoxemia, Cyanosis, Oxygen desaturation on exertion, Clubbing of fingers ORPHA:2302
Molybdenum Cofactor Deficiency, Complementation Group B
Cerebral atrophy, Hypoplasia of the corpus callosum, Short nose, Thin corpus callosum, Macrocepha... OMIM:252160
Fanconi Anemia, Complementation Group A
Microphthalmia, Microcephaly, Short stature, Complete duplication of thumb phalanx, Absent thumb,... OMIM:227650
Chops Syndrome
Short nose, High, narrow palate, Anteverted nares, Microcephaly, Short stature, Downturned corner... OMIM:616368
Q Fever
Myocarditis, Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Abnormal left ventricular... ORPHA:781
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Retrognathia, Convex nasal ridge, Death in childhood, High palat... OMIM:614437
Peters Plus Syndrome
Disproportionate short-limb short stature, Microcephaly, Wide mouth, Long philtrum, Intrauterine ... ORPHA:709
Fanconi Anemia, Complementation Group C
Microphthalmia, Intrauterine growth retardation, Microcephaly, Short stature, Complete duplicatio... OMIM:227645
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Difficulty walking, Difficulty in tongue movemen... ORPHA:365
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Optic atrophy, Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Vasculitis, Renal ar... OMIM:615688
Congenital Heart Block
Intrauterine growth retardation, Cyanosis ORPHA:60041
Mandibuloacral Dysplasia Progeroid Syndrome
Sandal gap, Narrow nasal ridge, Left ventricular hypertrophy, Long philtrum, Deep palmar crease, ... OMIM:619127
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Sepsis In Premature Infants
Abnormal bleeding, Jaundice, Anemia, Hepatomegaly, Purpura, Bradycardia, Petechiae, Tachycardia, ... ORPHA:90051
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Inability to walk, Gait disturbance, Weight loss, Eye of the tiger anomaly of globu... ORPHA:216866
Coffin-Siris Syndrome 12
Broad thumb, Microcephaly, Anteverted nares, Short stature, Failure to thrive, Radioulnar synosto... OMIM:619325
Pallister-Hall Syndrome
Microphthalmia, Mesoaxial polydactyly, Oligodactyly, Broad thumb, Bifid uvula, Intrauterine growt... ORPHA:672
Degcags Syndrome
Premature graying of hair, Retrognathia, Microphthalmia, Microcephaly, Wide mouth, Syndactyly, Lo... OMIM:619488
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, 3-Methylglutaconic aciduria, Congestive heart failure, Increased hepatic glycogen ... OMIM:619259
Pterygium Colli, Isolated
Short nose OMIM:177990
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Optic nerve hypoplasia, Long philtrum, Short 5th finger, Long toe, Intrauteri... ORPHA:508488
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut... OMIM:613179
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Purpura, Recurrent aphthous stomatitis, Growth delay, Urticaria, Ataxia, ... ORPHA:343
3Mc Syndrome 1
Postnatal growth retardation, Caudal appendage, Clinodactyly of the 5th finger, Single interphala... OMIM:257920
Chronic Hiccup
Abnormality of the diaphragm, Weight loss ORPHA:396
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Microdontia, Split foot, Microcephaly, Abnormal nasopharynx morphology, Oligodontia, Selective to... OMIM:129900
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hypoplasia of the corpus callosum, Congenital diaphragmatic hernia, Preaxial polydactyly, Anencep... OMIM:616546
Osteogenesis Imperfecta
Intestinal obstruction, Abnormal femur morphology, Abnormal hip bone morphology, Dislocated radia... ORPHA:666
Osteosarcoma
Abnormal metaphysis morphology, Abnormal femoral metaphysis morphology, Abnormal tibial metaphysi... ORPHA:668
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Hypoplasia of the corpus callosum, Fibular bowing, Tibial bowing, Femoral bowing, Microcephaly, M... ORPHA:85165
Genetic Transient Congenital Hypothyroidism
Prolonged neonatal jaundice, Macroglossia ORPHA:226316
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Renal tubular epithelial necrosis, Decreased glomerular fi... ORPHA:91500
Sickle Cell Anemia
Ischemic stroke, Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Incr... ORPHA:232
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Dental crowding, Abnormal jaw morphology, Arachnodactyly, Bifid uvula, Syndactyly... ORPHA:261552
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Hepatitis, Thrombocytopenia, Splenome... ORPHA:905
Bloom Syndrome
Postnatal growth retardation, Facial erythema, Clinodactyly of the 5th finger, Cutaneous photosen... OMIM:210900
Cranioectodermal Dysplasia 2
Retrognathia, Short ribs, Everted lower lip vermilion, Microdontia, Mesomelia, Syndactyly, Broad ... OMIM:613610
Tricuspid Atresia
Cyanosis ORPHA:1209
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Norrie Disease
Delayed puberty, Thin vermilion border, Microphthalmia, Narrow nasal bridge, Aplasia/Hypoplasia o... ORPHA:649
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele... OMIM:260920
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Crumpled long bones, Femoral retroversion, Wide anterior fontanel, Coxa vara, Microme... OMIM:610682
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Hypohidrotic Ectodermal Dysplasia
Anteverted nares, Abnormality of the dentition, Tooth agenesis, Sinusitis, Abnormal dental morpho... ORPHA:238468
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis OMIM:257500
Syndromic Diarrhea
Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Aortic regurgitation, Polyc... ORPHA:84064
Okamoto Syndrome
Polydactyly, Hypoplasia of the corpus callosum, Short nose, Anal stenosis, Talipes, Abnormally la... ORPHA:2729
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Purpura, Jaundice, Hepatomegaly, Anemia, Increased B cell count, Cholest... OMIM:620376
Neurofaciodigitorenal Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Mandibular prognathia, Abnormality of the ph... ORPHA:2673
1P21.3 Microdeletion Syndrome
Short nose, Macrocephaly, Micrognathia, Obesity, Broad nasal tip, Wide mouth ORPHA:293948
Eosinophilic Fasciitis
Myositis, Muscular edema, Weight loss, Acrocyanosis ORPHA:3165
Fanconi Anemia, Complementation Group D2
Hypoplasia of the corpus callosum, Microphthalmia, Absent radius, Esophageal atresia, Tracheoesop... OMIM:227646
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Macrocephaly, Rhizomelia, Anophthalmia, 2-3 toe syndactyly, Recurrent patellar di... OMIM:615877
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, High palate, Anosmia, Choanal atresia, Cleft lip, Hypoplasia of teeth, Paranasal ... OMIM:603457
Menke-Hennekam Syndrome 1
Everted upper lip vermilion, Sandal gap, Long philtrum, Overlapping toe, Short philtrum, Antevert... OMIM:618332
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Short st... ORPHA:988
Autoimmune Hepatitis
Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Sclerosing cholangitis, Acute hepatitis, Spider... ORPHA:2137
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Bilateral microphthalmos, Diffuse cerebral atrophy, Corpus callosum atrophy ORPHA:77299
Surfactant Metabolism Dysfunction, Pulmonary, 3
Clubbing, Death in infancy, Failure to thrive, Hypoxemia, Neonatal death, Cyanosis OMIM:610921
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Splenomegaly, Periton... OMIM:249100
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic nerve hypoplasia, Relative macrocephaly, Arachnodactyly, Bifid uvula, Absent thumb, Intraut... ORPHA:500150
Celiac Disease, Susceptibility To, 1
Delayed puberty, Postnatal growth retardation, Steatorrhea, Recurrent aphthous stomatitis, Stomat... OMIM:212750
Phosphoribosylpyrophosphate Synthetase Superactivity
Short nose, Death in childhood, High palate, Short stature, Ataxia, Wide mouth, Convex nasal ridg... OMIM:300661
Cockayne Syndrome Type 3
Hepatomegaly, Hydroureter, Unilateral renal agenesis, Increased blood pressure, Neurogenic bladde... ORPHA:90324
Congenital Fiber-Type Disproportion Myopathy
Dental crowding, Hypoxemia, Flexion contracture of finger, Type 1 muscle fiber atrophy, Elbow fle... ORPHA:2020
Limb-Mammary Syndrome
Cleft hard palate, Clinodactyly of the 5th finger, Hypodontia, Oligodactyly, Bifid uvula, Cleft p... ORPHA:69085
Acute Generalized Exanthematous Pustulosis
Purpura, Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficie... ORPHA:293173
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Hypoplasia of the corpus callosum, Hitchhiker thumb, High palate, Intrauterine growth retardation... OMIM:618500
Hereditary Orotic Aciduria
Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa... ORPHA:30
Crouzon Syndrome
Deviated nasal septum, Dental crowding, Mandibular prognathia, High palate, Hypoplasia of the max... OMIM:123500
Hemophagocytic Lymphohistiocytosis, Familial, 2
Prolonged prothrombin time, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymph... OMIM:603553
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Everted upper lip vermilion, Conical tooth, Periorbital wrinkles, Underdeveloped nasa... OMIM:305100
Lacrimoauriculodentodigital Syndrome
Anosmia, Microdontia, Bifid uvula, Absent thumb, Syndactyly, Clinodactyly, Hypoplasia of the radi... ORPHA:2363
Interatrial Communication
Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Spondylometaphyseal Dysplasia, Sedaghatian Type
Disproportionate short stature, Rhizomelic arm shortening, Short metacarpal, Iliac crest serratio... ORPHA:93317
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing OMIM:156232
Holoprosencephaly 2
Microphthalmia, Solitary median maxillary central incisor, Proboscis, Bilateral cleft palate, Med... OMIM:157170
Mogs-Cdg
Optic atrophy, Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, ... ORPHA:79330
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231226
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Myositis, Cachexia, Abnormal intestine morphology, Urticaria, Failure to thrive in inf... ORPHA:37042
Idiopathic Pulmonary Fibrosis
Acrocyanosis, Orthodeoxia, Clubbing of fingers ORPHA:2032
Primrose Syndrome
Delayed puberty, Cerebral calcification, Ataxia, Short distal phalanx of finger, Increased size o... OMIM:259050
Craniosynostosis And Dental Anomalies
Narrow palate, Supernumerary tooth, Dental malocclusion, Delayed eruption of teeth, Wide nose, De... OMIM:614188
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Talipes, Microcephaly, Short stature, Bifid uvula, Absence of the sacrum, Submucous cleft hard pa... OMIM:617660
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Short nose, Macrocephaly, Sandal gap, Broad-based gait, Cerebellar vermis hypoplasia, Optic nerve... OMIM:620330
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Abnormality of the hand, Abnormal shoulder morphology, Abnormality of the temporo... ORPHA:85408
Hemophagocytic Lymphohistiocytosis, Familial, 1
Prolonged prothrombin time, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Le... OMIM:267700
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Oculopalatocerebral Syndrome
Microcephaly, Microphthalmia, Cleft palate, Short stature OMIM:257910
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Femoral bowing, Microcephaly, Median pseudocleft lip, Intrauterine growth retardati... OMIM:616462
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Macular degeneration, Retinal hemorrhage, Cerebral ... OMIM:177850
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Leprechaunism
Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Hypertrophic cardiomyopathy, Nephrocal... ORPHA:508
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis... ORPHA:50918
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy, Acanthoc... OMIM:300842
Branchiooculofacial Syndrome
Premature graying of hair, Microphthalmia, Proximal placement of thumb, Microcephaly, Malrotation... OMIM:113620
Neuroocular Syndrome
Retrognathia, Microphthalmia, Prominent fingertip pads, Microcephaly, Deep palmar crease, Short u... OMIM:619539
Pyknoachondrogenesis
Increased head circumference, Short iliac bones, Craniofacial hyperostosis, Abnormality of mouth ... ORPHA:3003
Familial Drusen
Granular macular appearance, Macular hemorrhage, Abnormality of retinal pigmentation, Exudative r... ORPHA:75376
Gaucher Disease Type 3
Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc... ORPHA:77261
Dend Syndrome
Short nose, Anteverted nares, Downturned corners of mouth, Long philtrum, Clinodactyly of the 4th... ORPHA:79134
Acrodermatitis Enteropathica
Generalized abnormality of skin, Cheilitis, Glossitis, Furrowed tongue, Cerebral cortical atrophy... ORPHA:37
Charge Syndrome
Delayed puberty, Microphthalmia, Anosmia, Tracheoesophageal fistula, Microcephaly, Bifid femur, I... ORPHA:138
Central Retinal Vein Occlusion
Macular degeneration, Intraretinal hemorrhage, Papilledema, Retinal neovascularization, Pigmentar... ORPHA:411527
Fraser Syndrome 1
Dental crowding, Microcephaly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the phala... OMIM:219000
Ablepharon Macrostomia Syndrome
Thin vermilion border, Excessive wrinkled skin, Anteverted nares, Underdeveloped nasal alae, Micr... ORPHA:920
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Dyskeratosis Congenita
Premature graying of hair, Palmoplantar keratoderma, Periodontitis, Cerebral calcification, Abnor... ORPHA:1775
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Dislocated radial head, Mandibular condyle hypoplasia, Deformed humerus, Micrognathia, Hypoplasia... ORPHA:2975
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Long nose, Microcephaly, Intrauterine growth retardation, Short 5th finger, Short finger, Abnorma... OMIM:619522
Proboscis Lateralis
Abnormal ethmoid bone morphology, Orofacial cleft, Macrocephaly, Abnormal facial skeleton morphol... ORPHA:141099
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Disproportionate short-limb short stature, Short ribs, Long philtrum, Dandy-Walker malformation, ... ORPHA:93271
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplastic sacrum, Absence of Stensen duct, Anal stenosis, Selective tooth agenesis, Split hand,... OMIM:604292
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Pulmonary Arteriovenous Malformation
Ischemic stroke, Clubbing, Hypoxemia, Epistaxis, Cyanosis, Telangiectasia ORPHA:2038
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Cerebellar vermis hyp... OMIM:263520
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ... ORPHA:231214
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Retrognathia, Microphthalmia, Erythema, Wide nose, Anophthalmia,... ORPHA:2556
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Histiocytoid Cardiomyopathy
Optic atrophy, Congestive heart failure, Atrial flutter, Hepatomegaly, Wolff-Parkinson-White synd... ORPHA:137675
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Hypoplasia of the radius, Clinodactyly of the 5th finger, Anal atresia, Short stature, Toe syndac... ORPHA:140952
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, 11 pairs of ribs, Esophageal atresia, Anophthalmia, Tracheoesophageal fistula, Gr... ORPHA:77298
Chromosome 1P36 Deletion Syndrome, Distal
Microcephaly, Bifid uvula, Abnormality of the anus, Long philtrum, Short 5th finger, Polymicrogyr... OMIM:607872
Stüve-Wiedemann Syndrome
Abnormal metaphysis morphology, Genu valgum, Knee flexion contracture, Smooth tongue, Elbow flexi... ORPHA:3206
Distal Deletion 19P
Short philtrum, Hypoplasia of the maxilla, Arachnodactyly, Cleft palate, Long toe ORPHA:96129
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time, Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splen... OMIM:618641
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Microcephaly, Ataxia, Broad philtrum, Intrauterine growth retardation, Tip-toe g... OMIM:619475
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Renal insufficiency, Intrahepatic biliary atresia, Nephropathy, Portal h... ORPHA:1454
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Retinoblastoma
Retinal calcification, Vitreous hemorrhage, Leukemia OMIM:180200
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi... OMIM:620233
Becker Nevus Syndrome
Abnormal tibia morphology, Lower limb asymmetry, Micromelia, Upper limb asymmetry, Shoulder girdl... ORPHA:64755
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Cheilitis, Microphthalmia, Dental crowding, Everted lower lip vermilion, Tooth a... ORPHA:534
White-Kernohan Syndrome
Dysplastic corpus callosum, Retrognathia, Short nose, Rectovaginal fistula, Anteverted nares, Und... OMIM:619426
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Cutaneous photosensitivity, Microcephaly, Short stature, Ataxia, Basal ganglia ca... OMIM:610651
Microphthalmia/Coloboma 12
Vesicoureteral reflux, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretina... OMIM:120200
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebral atrophy, Global brain atrophy, Death in childhood, Death in infancy, Microcephaly, Failu... OMIM:618426
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Vasculitis, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditi... ORPHA:342
Dyrk1A-Related Intellectual Disability Syndrome
Structural foot deformity, Microcephaly, Arachnodactyly, Intrauterine growth retardation, Primary... ORPHA:464306
Vater/Vacterl Association
Postnatal growth retardation, Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb... OMIM:192350
Tolchin-Le Caignec Syndrome
Clinodactyly of the 5th finger, High palate, Narrow mouth, Diastasis recti, Arachnodactyly, Micro... OMIM:618971
Microsporidiosis
Myositis, Cachexia, Glossitis, Sinusitis, Rhinitis, Weight loss ORPHA:2552
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly OMIM:235555
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Splenomegaly, Hypereosinop... OMIM:617388
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Pulmonary arterial hypertension OMIM:612387
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Clubbing, Cyanosis OMIM:610910
Rift Valley Fever
Hematemesis, Abnormal bleeding, Jaundice, Anemia, Hematuria, Melena, Gingival bleeding, Retinal h... ORPHA:319251
Slc39A8-Cdg
Inability to walk, Disproportionate short-limb short stature, Elbow flexion contracture, Cerebral... ORPHA:468699
Huntington Disease-Like 2
Cerebral cortical atrophy, Weight loss OMIM:606438
Scheie Syndrome
Mucopolysacchariduria, Hepatomegaly, Splenomegaly, Aortic regurgitation ORPHA:93474
Trichothiodystrophy
Retrognathia, Periventricular leukomalacia, Cerebral dysmyelination, High, narrow palate, Bilater... ORPHA:33364
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly OMIM:613027
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ... OMIM:620066
Sitosterolemia 1
Abnormal bleeding, Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, ... OMIM:210250
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Short nose, 2-3 toe syndactyly, Prominent nasal tip, Bilateral talipes equinovarus... ORPHA:522077
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypertension, Renal artery stenosis, Cardiomegaly, Dilated cardiomyopat... OMIM:208000
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
22Q11.2 Deletion Syndrome
Microphthalmia, Microcephaly, Arachnodactyly, Intestinal malrotation, Long philtrum, Intrauterine... ORPHA:567
Ollier Disease
Abnormal metaphysis morphology, Micromelia ORPHA:296
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Microcephaly, Overlapping toe, Cyanosis, Partial agenesis of the corpus callosum OMIM:617478
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Microphthalmia, Single naris, Choanal atresia, Anal atresia, Hyp... OMIM:273395
Familial Aortic Dissection
Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation ORPHA:229
Chédiak-Higashi Syndrome
Abnormal bleeding, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, ... ORPHA:167
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno... OMIM:257220
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Congestive heart failure, Liver abscess, Anemia, Leukocytosis, Abnormal pericardium... ORPHA:67
Hardikar Syndrome
Hematemesis, Intrahepatic bile duct dilatation, Hypertension, Cholestasis, Prolonged neonatal jau... OMIM:301068
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Myocardial eosinophilic infiltration, Splenomegaly, Cholangitis, Supraventricula... ORPHA:3260
Shigellosis
Myocarditis, Acute kidney injury, Urethritis, Purpura, Hemolytic-uremic syndrome, Splenic abscess... ORPHA:810
Specc1L-Related Hypertelorism Syndrome
Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Clinodactyly of the 5th finge... ORPHA:1519
X-Linked Agammaglobulinemia
Glossoptosis, Sinusitis, Failure to thrive, Short stature, Weight loss ORPHA:47
Thyroid Ectopia
Short stature, Jaundice, Macroglossia, Growth delay ORPHA:95712
Chronic Pneumonitis Of Infancy
Failure to thrive, Hypoxemia, Cyanosis ORPHA:91359
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ... OMIM:607765
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal metaphysis morphology, Inflammation of the large intestine, Weight loss, Abnormal sacroi... ORPHA:324964
Mucolipidosis Type Ii
Postnatal growth retardation, Abnormal long bone morphology, Inability to walk, Limited wrist mov... ORPHA:576
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... OMIM:308230
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo... ORPHA:158048
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Short nose, Hiatus hernia, High palate, Narrow mouth, Diastasis recti, Fragile skin, Intestinal m... OMIM:601776
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Bilateral microphthalmos, Anophthalmia, Short stature, Micrognat... OMIM:601186
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Cleft Soft Palate
Cleft soft palate OMIM:119570
Common Variable Immunodeficiency
Purpura, Lymphadenopathy, Vasculitis, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoim... ORPHA:1572
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate, Waddling gait, Skeletal muscle atrophy, Bruising susceptibility, Pes planus, T... OMIM:614557
Liver Disease, Severe Congenital
Left atrial enlargement, Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia, Splenomegaly, C... OMIM:619991
Lysosomal Acid Lipase Deficiency
Steatorrhea, Jaundice, Cachexia, Esophageal varix, Failure to thrive, Weight loss ORPHA:275761
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hypoplasia of the corpus callosum, Muscular dystrophy, Microphthalmia, Macrocephaly, Cerebellar v... OMIM:616538
Microphthalmia, Syndromic 3
Hypoplasia of the corpus callosum, Postnatal growth retardation, Microphthalmia, Esophageal atres... OMIM:206900
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233710
Deafness, X-Linked 7
Unilateral microphthalmos, Wide nasal bridge OMIM:301018
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Macrocephaly, Anteverted nares, Everted lower lip vermilion, Short stature, Obes... ORPHA:293987
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy... OMIM:102700
Myasthenic Syndrome, Congenital, 21, Presynaptic
Difficulty walking, Knee flexion contracture, Meconium ileus, Weakness of facial musculature, Hyp... OMIM:617239
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Increased proportion of CD4-positive T cells, Vasculitis, Leukocytosis, Neutroph... OMIM:617099
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Microphthalmia, Abnormality of the dentition, Narrow nasal bridge ORPHA:1806
Fucosidosis
Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly ORPHA:349
Congenital Tufting Enteropathy
Abnormal large intestinal mucosa morphology, Steatorrhea, Orofacial cleft, Abnormal small intesti... ORPHA:92050
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Rectovaginal fistula, Oligodactyly, Perineal fistula, Ectrodactyly, Ana... ORPHA:3016
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, High palate, Microcephaly, Wide nasal bridge, Depressed nasal bridge OMIM:110100
Absence Of The Pulmonary Artery
Congestive heart failure, Atrial flutter, Cardiomegaly, Reduced left ventricular ejection fractio... ORPHA:980
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Lysinuric Protein Intolerance
Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Leukopenia, Splenomegaly, T... OMIM:222700
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Pes cavus, Intestinal pseudo-obstruction, Broad-based gait, Ragged-red muscle fibers, Scapular wi... OMIM:607459
Urachal Cyst
Hematuria, Pyuria, Dysuria, Leukocytosis, Abdominal mass, Peritonitis, Urachus fistula, Abscess ORPHA:488
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Microphthalmia, Polymicrogyria, Type II lissencephaly, Agyria, Calf muscle hy... OMIM:253800
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypoxemia, Clubbing, Weight loss ORPHA:79127
Triosephosphate Isomerase Deficiency
Congestive heart failure, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic ane... OMIM:615512
Brucellosis
Granuloma, Pericarditis, Intrarenal abscess, Leukopenia, Splenomegaly, Myocarditis, Transient isc... ORPHA:1304
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Enlarged platelet... OMIM:608233
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:617591
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis ORPHA:70587
Carnitine-Acylcarnitine Translocase Deficiency
Microcephaly, Rhabdomyolysis, Cyanosis ORPHA:159
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypotension, Leukocytosis, Hypovolemia, Cardiogenic shock,... ORPHA:31824
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Abnormal right ventricu... ORPHA:3427
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233690
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils ORPHA:379
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Microphthalmia, Buphthalmos, Polymicrogyria, Type II lissencephaly, Everted l... OMIM:253280
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Genitourinary And/Or Brain Malformation Syndrome
Secondary microcephaly, Dysplastic corpus callosum, Ileal atresia, Macrocephaly, Short nose, Poly... OMIM:618820
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature, Cleft palate OMIM:610125
Riddle Syndrome
Erythema, Gait disturbance, Microcephaly, Conjunctival telangiectasia, Short stature, Recurrent s... ORPHA:420741
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced left ventricular ejection fraction, Pollakisuria, Right bundle branch block, Right ventri... ORPHA:268
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Molybdenum Cofactor Deficiency, Complementation Group A
Cerebral atrophy, Hypoplasia of the corpus callosum, Short nose, Macrocephaly, Microcephaly, Grow... OMIM:252150
Phacoanaphylactic Uveitis
Hyphema, Retinal arteritis, Tractional retinal detachment ORPHA:209959
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Macrocephaly, Abnormality of the medullary cavity of the long bones, Severe short... OMIM:127000
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Generalized aminoaciduria, Periportal fibrosis, Ascites, Portal hypertens... OMIM:251880
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Holoprosencephaly 1
Tessier cleft, Microphthalmia, Proboscis, Median cleft palate, Microcephaly, Short stature, Agene... OMIM:236100
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Abnormal basal ganglia MRI signal intensity, Dysdiadochokinesis, Gait disturbance, Basal ganglia ... OMIM:301310
Granulomatosis With Polyangiitis
Retinal hemorrhage, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Granulomatosis OMIM:608710
Incontinentia Pigmenti
Microphthalmia, Conical tooth, Delayed eruption of teeth, Oligodontia, Microcephaly, Short statur... OMIM:308300
Pearson Syndrome
Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphology, Splenome... ORPHA:699
Surfactant Metabolism Dysfunction, Pulmonary, 2
Failure to thrive, Hypoxemia, Clubbing, Cyanosis OMIM:610913
Adams-Oliver Syndrome 1
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Microphthalmia, Polymicrogyria, ... OMIM:100300
Hereditary Central Diabetes Insipidus
Growth delay, Weight loss ORPHA:30925
Reynolds Syndrome
Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Lip telangiectasia, Cholestasis, Biliary cir... OMIM:613471
Abetalipoproteinemia
Prolonged prothrombin time, Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Abnormal b... ORPHA:14
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Urinary incontinence, Cardiomyopathy, Orthostatic hypotension due to autonomic dysf... OMIM:105210
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Microphthalmia, Anophthalmia, Failure to thrive, Duodenal stenos... ORPHA:2470
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cerebral atrophy, Cyanosis OMIM:261680
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Cholestasis, Tricuspid regurgitatio... OMIM:300972
Bullous Pemphigoid
Urticaria, Weight loss, Erythema, Oral mucosal blisters ORPHA:703
Glossopharyngeal Neuralgia
Mandibular pain, Abnormal palate morphology, Weight loss, Tongue pain ORPHA:221098
Niemann-Pick Disease, Type C2
Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi... OMIM:607625
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Axenfeld-Rieger Syndrome, Type 1
Anal stenosis, Aniridia, Short philtrum, Oligodontia, Microdontia, Anal atresia, Hypoplasia of th... OMIM:180500
Pyomyositis
Recurrent cutaneous abscess formation, Sudden cardiac death, Renal insufficiency, Leukocytosis ORPHA:764
Pierson Syndrome
Posterior lenticonus, Retinal detachment, Hypertension, Remnants of the hyaloid vascular system, ... OMIM:609049
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia, Cutaneous photosensitivity, Microcephaly, Ataxia, Choreoathetosis, Telangiectasia OMIM:278730
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Hypertension, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydroneph... OMIM:617913
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc... OMIM:610199
Mowat-Wilson Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Aganglionic megacolon, Widely spaced teeth, De... OMIM:235730
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Truncus Arteriosus
Transposition of the great arteries, Aortic regurgitation, Cardiomegaly, Abnormal heart valve mor... ORPHA:3384
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Single transverse palmar crease, Microphthalmia, High palate OMIM:619053
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Vasculitis, Leukocytosis, Pericarditis, Splenomegaly, Peritonitis, Abnormal myoc... ORPHA:32960
Yellow Fever
Hematemesis, Acute kidney injury, Prolonged prothrombin time, Jaundice, Abnormal bleeding, Reduce... ORPHA:99829
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Micrognathia, Cleft palate, Microphthalmia OMIM:153400
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Poems Syndrome
Metaphyseal sclerosis, Clubbing of fingers, Weight loss, Acrocyanosis, Plethora ORPHA:2905
Oculopharyngodistal Myopathy 1
Difficulty walking, Distal amyotrophy, Rimmed vacuoles, Autophagic vacuoles, High palate, Facial ... OMIM:164310
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Microphthalmia, Failure to thrive, Delayed eruption of primary teeth OMIM:300952
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Weight loss, Cutaneous photosensitivity ORPHA:312
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia, Splenomegaly OMIM:612918
Acute Interstitial Pneumonia
Hypoxemia, Cyanosis ORPHA:79126
Fraser Syndrome 2
Microphthalmia, Rectal atresia, Wide nose, Narrow mouth, Anal atresia, Intestinal malrotation, Cu... OMIM:617666
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Ascites, Granuloma, ... OMIM:306400
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis, Pedal edema, Clubbing of fingers ORPHA:199241
Isolated Biliary Atresia
Prolonged prothrombin time, Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, ... ORPHA:30391
Atrial Septal Defect, Ostium Primum Type
Clubbing of fingers, Failure to thrive, Clubbing of toes, Left ventricular hypertrophy, Cyanosis ORPHA:99106
Necrotizing Enterocolitis
Cyanosis, Small for gestational age ORPHA:391673
Hyperparathyroidism, Neonatal Severe
Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Splenomegaly, Aminoaciduria OMIM:239200
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility ORPHA:158687
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the corpus callosum, Microphthalmia, Dandy-Walker malformation, Cortical dysplasia,... OMIM:613001
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, Microphthalmia ORPHA:363741
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Microphthalmia OMIM:601794
Peroxisome Biogenesis Disorder 4B
Short nose, Macrocephaly, Single transverse palmar crease, Gait disturbance, Ataxia OMIM:614863
Bohring-Opitz Syndrome
Optic atrophy, Annular pancreas, Cholelithiasis, Bradycardia, Coloboma, Retinal atrophy, Cardiome... ORPHA:97297
Lowe Oculocerebrorenal Syndrome
Postnatal growth retardation, Wrist swelling, Microphthalmia, Genu valgum, Short stature, Camptod... OMIM:309000
Secondary Short Bowel Syndrome
Steatorrhea, Aganglionic megacolon, Growth delay, Enterocolitis, Volvulus, Failure to thrive, Wei... ORPHA:95427
Pseudomyxoma Peritonei
Intestinal obstruction, Weight loss, Inflammation of the large intestine ORPHA:26790
Aicardi-Goutières Syndrome
Hypoplasia of the corpus callosum, Difficulty walking, Degeneration of the striatum, Cerebral cal... ORPHA:51
Hereditary Chronic Pancreatitis
Jaundice, Leukocytosis, Pancreatic calcification, Recurrent pancreatitis ORPHA:676
Oculotrichoanal Syndrome
Microphthalmia, Anal stenosis, Anophthalmia, Bifid nasal tip, Anteriorly placed anus ORPHA:2717
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anal stenosis, Anophthalmia, Bifid nasal tip, Broad nasal tip, Anteriorly placed ... OMIM:248450
Rheumatoid Arthritis
Digital flexor tenosynovitis, Interphalangeal joint erosions, Weight loss, Swan neck-like deformi... OMIM:180300
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Familial Tumoral Calcinosis
Hepatomegaly, Nephrocalcinosis, Splenomegaly ORPHA:53715
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly, Tricuspid regurgitation OMIM:620306
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Cardiomegaly, Hypertension, Transient ischemic attack, Hyp... ORPHA:91387
Allergic Bronchopulmonary Aspergillosis
Cerebral cortical atrophy, Weight loss ORPHA:1164
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Failure to thrive, Prolonged neonatal jaundice, Weight loss, Hip dyspl... OMIM:619377
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Microphthalmia, Single transverse palmar crease, Anal atresia, M... OMIM:309801
Ethylene Glycol Poisoning
Gastritis, Facial palsy, Cerebral edema, Ataxia, Cyanosis ORPHA:31826
Pulmonary Alveolar Microlithiasis
Clubbing of fingers, Stippled calcification in carpal bones, Hypoxemia, Weight loss, Cyanosis, Ox... ORPHA:60025
Lipodystrophy, Familial Partial, Type 7
Short nose, Progeroid facial appearance, Decreased adipose tissue around neck, Narrow nasal ridge... OMIM:606721
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Ischemic stroke, Oral cavity telangiectasia, Nail bed telangiectasia, Gast... OMIM:600376
Linear Nevus Sebaceus Syndrome
Microphthalmia, Genu recurvatum, Cerebral calcification, Dandy-Walker malformation, Porencephalic... ORPHA:2612
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Ischemic stroke, Nail bed telangiectasia, Gastrointestinal arteriovenous m... OMIM:187300
Williams-Beuren Syndrome
Premature graying of hair, Microdontia, Long philtrum, Intrauterine growth retardation, Anteverte... OMIM:194050
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Gaucher Disease
Leukopenia, Splenomegaly, Abnormal bleeding, Pancytopenia, Splenic infarction, Pulmonary arterial... ORPHA:355
Classical Ehlers-Danlos Syndrome
Rectal prolapse, Abnormal foot morphology, Abnormality of the temporomandibular joint, Dislocated... ORPHA:287
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Mucosal telangiectasiae, Abnormal thymus morphology ORPHA:2463
Primary Hyperoxaluria
Rootless teeth, Abnormality of the dentition, Failure to thrive, Cutis marmorata, Acrocyanosis, A... ORPHA:416
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Thrombocytosis, Lymphocytosis, Decreased proportion of ... OMIM:301074
Pleural Mesothelioma
Weight loss ORPHA:50251
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Subdural hemorrhage, Retinal hemorrhage, Chronic kidney disease ORPHA:25
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Holocarboxylase Synthetase Deficiency
Growth delay, Ataxia, Weight loss ORPHA:79242
Gerstmann-Straussler Disease
Limb ataxia, Truncal ataxia, Gait ataxia, Neurofibrillary tangles, Weight loss, Lower limb muscle... OMIM:137440
Aicardi-Goutieres Syndrome 9
Cerebral atrophy, Cerebral calcification, Diffuse leukoencephalopathy, Microcephaly, Lower limb h... OMIM:619487
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Wide nose, Anophthalmia, Anteverted nares, Microcephaly, Severe short stature, Th... ORPHA:2526
Hypothyroidism, Congenital, Nongoitrous, 2
Growth delay, Macroglossia OMIM:218700
Primary Sclerosing Cholangitis
Prolonged prothrombin time, Neoplasm of the gallbladder, Spider hemangioma, Cholestasis, Ascites,... ORPHA:171
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Focal Myositis
Myositis, Weight loss ORPHA:48918
Hereditary Late-Onset Parkinson Disease
Hypomimic face, Akinesia, Hyposmia, Shuffling gait, Cerebral cortical atrophy, Lewy bodies, Weigh... ORPHA:411602
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Aganglionic megacolon, Biparietal narrowing, Long fibula ORPHA:935
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Recurrent upper and lower respiratory tract infections, Weight loss... ORPHA:171876
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Non-Functioning Paraganglioma
Flushing, Weight loss ORPHA:94080
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple... ORPHA:567983
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Unilateral Polymicrogyria
Cortical dysplasia, Microcephaly, Perisylvian polymicrogyria, Epistaxis, Cyanosis ORPHA:268943
Pemphigus Vulgaris
Urticaria, Erosion of oral mucosa, Weight loss, Oral mucosal blisters ORPHA:704
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Weight loss ORPHA:65682
Microphthalmia, Syndromic 1
Microphthalmia, Radial deviation of finger, Dental crowding, Prominent fingertip pads, Microcepha... OMIM:309800
Multiple Myeloma
Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Spl... ORPHA:29073
Townes-Brocks Syndrome
Delayed puberty, Microphthalmia, Absent toe, Broad thumb, Wide mouth, Aplasia/Hypoplasia of the 3... ORPHA:857
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Retinal hemorrhage, Tachycardia, Ventricular septal defect OMIM:614653
Noonan Syndrome 3
Short nose, Anteverted nares, High palate, Short stature, Hypoplastic nasal bridge, Bruising susc... OMIM:609942
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Weight loss, Allergic rhinitis ORPHA:2070
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis ORPHA:49566
Polyarteritis Nodosa
Cutis marmorata, Erythema, Weight loss ORPHA:767
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Restrictive Dermopathy
Temporomandibular joint ankylosis, Narrow mouth, Choanal atresia, Structural foot deformity, Micr... ORPHA:1662
Giant Cell Arteritis
Recurrent pharyngitis, Glossitis, Ataxia, Epistaxis, Weight loss ORPHA:397
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
Perry Syndrome
Akinesia, Short stepped shuffling gait, Weight loss OMIM:168605
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Malignant Peritoneal Mesothelioma
Pedal edema, Ileus, Weight loss ORPHA:168811
Idiopathic Chronic Eosinophilic Pneumonia
Generalized abnormality of skin, Hypoxemia, Weight loss ORPHA:2902
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypertension, Medullary nephrocalcinosis, Transient ischem... ORPHA:51608
Congenital Tracheomalacia
Esophageal atresia, Tracheoesophageal fistula, Failure to thrive, Recurrent upper respiratory tra... ORPHA:95430
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Postnatal growth retardation, Slender finger, Microcephaly, Short stature, Long fingers, Depresse... OMIM:613355
Familial Dysautonomia
Growth delay, Ataxia, Gait disturbance, Acrocyanosis ORPHA:1764
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi... OMIM:619534
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Yao Syndrome
Oral ulcer, Weight loss, Xerostomia OMIM:617321
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Tibial bowing, Microcephaly, Short stature, Metaphyseal widening, Phthisis bulbi OMIM:259770
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Ischemic stroke, Lip telangiectasia, Spontaneous, recurrent epistaxis, Nas... OMIM:610655
Cap Polyposis
Weight loss, Atrophic gastritis, Colorectal polyposis ORPHA:160148
Oculoauricular Syndrome
Short mandibular rami, Microphakia, Microphthalmia, Phthisis bulbi, Macular hypoplasia OMIM:612109
Rhabdoid Tumor
Weight loss ORPHA:69077
Microphthalmia/Coloboma 9
Long philtrum, Microphthalmia OMIM:615145
Fatal Familial Insomnia
Ataxia, Weight loss, Cerebral cortex with spongiform changes OMIM:600072
Takayasu Arteritis
Weight loss ORPHA:3287
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Weight loss, Tracheoesophageal fistula ORPHA:142
Hyperlipoproteinemia, Type I
Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly OMIM:238600
Polymyositis
Abnormal muscle fiber morphology, Gait disturbance, Weight loss ORPHA:732
Craniofacial Microsomia 1
Microphthalmia, Genu valgum, Transverse facial cleft, Anophthalmia, Maxillozygomatic hypoplasia, ... OMIM:164210
Perry Syndrome
Weight loss ORPHA:178509
Kaposi Sarcoma
Abnormality of the lower limb, Weight loss ORPHA:33276
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis OMIM:615947
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Hypercalciuria, Optic neuropathy, Pulmon... OMIM:181000
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Weight loss ORPHA:103910
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Growth delay, Hypogeusia, Acrocyanosis OMIM:223900
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Diffuse Alveolar Hemorrhage
Hypoxemia, Weight loss ORPHA:90060
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Microcephaly, Ataxia, Weight loss, Leukoencephalopathy ORPHA:20
Ménétrier Disease
Stomach cancer, Giant hypertrophic gastritis, Abnormal gastric mucosa morphology, Weight loss, Mu... ORPHA:2494
Graves Disease
Weight loss OMIM:275000
Imerslund-Gräsbeck Syndrome
Glossitis, Failure to thrive, Weight loss, Angular cheilitis ORPHA:35858
Chronic Visceral Acid Sphingomyelinase Deficiency
Cirrhosis, Hepatomegaly, Abnormal bleeding, Cholelithiasis, Acute promyelocytic leukemia, Abnorma... ORPHA:77293
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Choreoacanthocytosis
Abnormal putamen morphology, Equinovarus deformity, Falls, Frontal cortical atrophy, Distal amyot... ORPHA:2388
Nephroblastoma
Aniridia, Weight loss ORPHA:654
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Weight loss OMIM:188580
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology, Epistaxis, Bruising susceptibility, Weight loss ORPHA:79430
Hypermobile Ehlers-Danlos Syndrome
Rectal prolapse, High, narrow palate, Abnormal foot morphology, Abnormality of the wrist, Dental ... ORPHA:285
Familial Colorectal Cancer Type X
Neoplasm of the rectum, Stomach cancer, Gait disturbance, Flexion contracture, Weight loss, Neopl... ORPHA:440437
Heterotaxy, Visceral, 7, Autosomal
Intestinal malrotation, Cyanosis OMIM:616749
Alveolar Echinococcosis
Abnormality of the diaphragm, Jaundice, Abnormal skeletal muscle morphology, Abnormal pelvis bone... ORPHA:284
Aicardi-Goutieres Syndrome 7
Cerebral atrophy, Limb hypertonia, Intracerebral periventricular calcifications, Microcephaly, Ur... OMIM:615846
Chronic Beryllium Disease
Weight loss ORPHA:133
Thymic Carcinoma
Weight loss ORPHA:99868
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal obstruction, Purpura, Petechiae, Intestinal perforation, Weight loss, Myopathy ORPHA:85450
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss OMIM:256700
Dermatomyositis
Facial erythema, V-sign, Inflammatory myopathy, Myositis, Cutaneous photosensitivity, EMG: myopat... ORPHA:221
Criss-Cross Heart
Cyanosis ORPHA:1461
Cystinosis, Nephropathic
Cerebral atrophy, Delayed puberty, Genu valgum, Cerebral calcification, Short stature, Failure to... OMIM:219800
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Failure to thrive, Downturned corners of mouth, Ataxia, Weight loss... ORPHA:99885
Refractory Celiac Disease
Protein-losing enteropathy, Weight loss, Jejunitis, Villous atrophy ORPHA:398063
Primary Intestinal Lymphangiectasia
Abnormal small intestinal villus morphology, Intestinal lymphangiectasia, Weight loss, Growth delay ORPHA:90362
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Pneumocystosis
Hypoxemia, Weight loss ORPHA:723
Wild Type Attr Amyloidosis
Pedal edema, Weight loss, Decreased/absent ankle reflexes ORPHA:330001
Cardiogenic Shock
Hypoxemia, Cyanosis ORPHA:97292
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Igg4-Related Aortitis
Intestinal obstruction, Weight loss ORPHA:449400
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Myasthenia Gravis
Myositis, Acrocyanosis ORPHA:589
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Cystic Echinococcosis
Jaundice, Abnormality of the diaphragm, Weight loss, Urticaria ORPHA:400
Loeffler Endocarditis
Weight loss, Left ventricular hypertrophy ORPHA:75566
Bronchial Neuroendocrine Tumor
Dermatological manifestations of systemic disorders, Facial telangiectasia, Weight loss ORPHA:97287
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Malignant Atrophic Papulosis
Ischemic stroke, Intestinal perforation, Intestinal fistula, Telangiectasia of the skin, Weight loss ORPHA:679
Erdheim-Chester Disease
Abnormal metaphysis morphology, Ataxia, Abnormal epiphysis morphology, Weight loss ORPHA:35687
Immunodeficiency 31C
Delayed puberty, Protein-losing enteropathy, Short stature, Growth delay, Skeletal muscle atrophy... OMIM:614162
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Liposarcoma
Weight loss ORPHA:69078
Peripheral Primitive Neuroectodermal Tumor
Jaundice, Torticollis, Weight loss, Lower limb muscle weakness ORPHA:370348
Thymic Neuroendocrine Tumor
Prominent veins on trunk, Weight loss ORPHA:97289
Lynch Syndrome
Neoplasm of the stomach, Intestinal polyposis, Neoplasm of the rectum, Death in early adulthood, ... ORPHA:144
Neuroblastoma
Ataxia, Weight loss, Antalgic gait ORPHA:635
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Papillorenal Syndrome
Short stature, Microphthalmia OMIM:120330
Parkinson Disease 4, Autosomal Dominant
Lewy bodies, Weight loss OMIM:605543
Postinfectious Vasculitis
Ischemic stroke, Palpable purpura, Vasculitis in the skin, Cutis marmorata, Weight loss, Acrocyan... ORPHA:48435
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Congenital Tracheal Stenosis
Meckel diverticulum, Anal atresia, Tracheoesophageal fistula, Duodenal stenosis, Abnormal stomach... ORPHA:141127
Juvenile Dermatomyositis
Calcinosis, Cutaneous photosensitivity, Myositis, Telangiectasia of the skin, Weight loss, Mucosa... ORPHA:93672
Sporadic Pheochromocytoma/Secreting Paraganglioma
Flushing, Weight loss ORPHA:276621
Granulomatosis With Polyangiitis
Abnormality of the nose, Intestinal obstruction, Purpura, Abnormal oral cavity morphology, Sinusi... ORPHA:900
Beta-Ketothiolase Deficiency
Ataxia, Weight loss ORPHA:134
Hereditary Pheochromocytoma-Paraganglioma
Flushing, Aniridia, Weight loss ORPHA:29072
Nodular Non-Suppurative Panniculitis
Erythema, Weight loss ORPHA:33577
Primary Hepatic Neuroendocrine Carcinoma
Facial telangiectasia, Intermittent jaundice, Weight loss ORPHA:100085
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Pedal edema ORPHA:99103
Phace Association
Optic nerve hypoplasia, Microphthalmia, Dandy-Walker malformation, Cerebellar hypoplasia OMIM:606519
Neuroendocrine Tumor Of The Colon
Facial telangiectasia, Weight loss ORPHA:100080
Glucagonoma
Intestinal obstruction, Steatorrhea, Stomatitis, Glossitis, Intermittent jaundice, Weight loss, S... ORPHA:97280
Simple Cryoglobulinemia
Purpura, Cold urticaria, Vascular skin abnormality, Weight loss ORPHA:91139
Phace Syndrome
Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation, Microcephaly, Agenesis of corp... ORPHA:42775
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Thymoma
Myositis, Ulcerative colitis, Weight loss ORPHA:99867
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Abnormal esophagus morphology, Failure to thrive, Weight loss, Esophageal st... ORPHA:1018
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Failure to thrive, Cyanosis ORPHA:99050
Neuroendocrine Tumor Of The Rectum
Facial telangiectasia, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Facial telangiectasia, Weight loss ORPHA:100082
Late-Onset Isolated Acth Deficiency
Celiac disease, Failure to thrive, Weight loss ORPHA:199299
Trichinellosis
Retinal hemorrhage ORPHA:863
Klatskin Tumor
Jaundice, Weight loss ORPHA:99978
Neuroendocrine Tumor Of Stomach
Dermatological manifestations of systemic disorders, Facial telangiectasia, Weight loss ORPHA:100075
Eisenmenger Syndrome
Hypoxemia, Clubbing, Pedal edema, Cyanosis ORPHA:97214
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Increased body weight, Decreased body weight, Abnormality of ... ORPHA:2298
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Castleman Disease
Intestinal obstruction, Jaundice, Weight loss ORPHA:160
Familial Pancreatic Carcinoma
Jaundice, Colon cancer, Weight loss, Intestinal pseudo-obstruction ORPHA:1333
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Aortic Arch Interruption
Cyanosis, Pedal edema, Left ventricular hypertrophy ORPHA:2299
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Toxic Epidermal Necrolysis
Intestinal perforation, Weight loss, Erythema, Tracheoesophageal fistula ORPHA:537
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Miscarriage, Short stature, Failure to thrive, Weight loss, Premature fusion of the radial epiphy... ORPHA:90794
Carney-Stratakis Syndrome
Intestinal obstruction, Weight loss, Gastrointestinal stroma tumor ORPHA:97286
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Stevens-Johnson Syndrome
Esophageal stricture, Erythema, Weight loss ORPHA:36426
Penile Agenesis
Short nose, Rectal fistula, Anal atresia, Tracheoesophageal fistula, Bilateral talipes equinovaru... ORPHA:49
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Parathyroid Carcinoma
Mandibular pain, Weight loss, Peptic ulcer ORPHA:143
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Retinal hemorrhage ORPHA:79098
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Retinal hemorrhage, Peripapillary atrophy, Cerebral ... OMIM:175780
Thyrotoxic Periodic Paralysis
Rhabdomyolysis, Obesity, Weight loss, Increased intramyocellular lipid droplets, Abnormal muscle ... ORPHA:79102
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Behçet Disease
Recurrent aphthous stomatitis, Myositis, Oral ulcer, Gait disturbance, Ataxia, Weight loss ORPHA:117
Zollinger-Ellison Syndrome
Peptic ulcer, Duodenal ulcer, Intestinal obstruction, Jaundice, Esophagitis, Weight loss, Erythema ORPHA:913
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the stomach, Purpura, Intra-oral hyperpigmentation, Increased body weight, Plethora, ... ORPHA:99889
Ileal Neuroendocrine Tumor
Dermatological manifestations of systemic disorders, Intestinal fistula, Weight loss ORPHA:100078
Grfoma
Intestinal obstruction, Intermittent jaundice, Weight loss, Subcutaneous lipoma, Palmoplantar hyp... ORPHA:97261
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Steatorrhea, Weight loss, Colitis ORPHA:309031
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Ppoma
Subcutaneous lipoma, Intestinal obstruction, Intermittent jaundice, Weight loss ORPHA:97278
Acute Adrenal Insufficiency
Delayed puberty, Failure to thrive, Weight loss ORPHA:95409
Somatostatinoma
Intestinal obstruction, Steatorrhea, Intermittent jaundice, Weight loss, Subcutaneous lipoma ORPHA:97283
Gallbladder Neuroendocrine Tumor
Intermittent jaundice, Weight loss ORPHA:100086
African Trypanosomiasis
Akinesia, Abnormal basal ganglia MRI signal intensity, Difficulty walking, Jaundice, Miscarriage,... ORPHA:3385
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Congenitally Corrected Transposition Of The Great Arteries
Failure to thrive, Cyanosis ORPHA:216694
Goodpasture Syndrome
Cyanosis, Weight loss OMIM:233450
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Myositis, Abnormality of the submandibular glands, Weight los... ORPHA:79078
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Rat-Bite Fever
Tendonitis, Parotitis, Weight loss ORPHA:31205
Systemic Lupus Erythematosus
Cheilitis, Cutaneous photosensitivity, Oral ulcer, Weight loss, Abnormal pigmentation of the oral... ORPHA:536
Pancreatoblastoma
Jaundice, Weight loss ORPHA:677
Addison Disease
Celiac disease, Failure to thrive, Delayed puberty, Weight loss ORPHA:85138
Vipoma
Subcutaneous lipoma, Intermittent jaundice, Erythema, Weight loss ORPHA:97282
Igg4-Related Retroperitoneal Fibrosis
Pedal edema, Weight loss ORPHA:49041
Reactive Arthritis
Inflammation of the large intestine, Recurrent aphthous stomatitis, Weight loss ORPHA:29207
Tropical Pancreatitis
Jaundice, Weight loss ORPHA:103918
Chronic Graft Versus Host Disease
Erythema, Abnormal esophagus morphology, Esophageal ulceration, Flexion contracture, Weight loss,... ORPHA:99921
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Villous atrophy, Gastritis, Anoperineal fistula, Oral ulcer, Vasculitis in the sk... OMIM:619381
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Weight loss ORPHA:91347
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Sarcoidosis
Abnormal nasal mucosa morphology, Parotitis, Facial palsy, Weight loss, Enlargement of parotid gland ORPHA:797
Multiple Endocrine Neoplasia Type 1
Peptic ulcer, Duodenal ulcer, Weight loss, Gingival fibromatosis ORPHA:652
Primary Fanconi Renotubular Syndrome
Growth delay, Weight loss ORPHA:3337
Malt Lymphoma
Weight loss ORPHA:52417
Nocardiosis
Weight loss ORPHA:31204

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ryk

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ryk.

No publications found that use IMPC mice or data for Ryk.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Rykem1(IMPC)Mbp Exon Deletion Mice, Tissue
Ryktm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ryktm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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