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Gene: Sgsh MGI:1350341

Gene Summary

Name:

N-sulfoglucosamine sulfohydrolase (sulfamidase)

Synonyms:

4632406A19Rik, sulphamidase

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
thrombocytosis	Sgsh^em3(IMPC)Tcp	HOM	Early adult	7.75×10^-05
increased startle reflex	Sgsh^em3(IMPC)Tcp	HOM	Early adult	1.76×10^-08
short tibia	Sgsh^em3(IMPC)Tcp	HOM	Early adult	1.35×10^-07
decreased exploration in new environment	Sgsh^em3(IMPC)Tcp	HOM	Early adult	1.89×10^-05
increased blood urea nitrogen level	Sgsh^em3(IMPC)Tcp	HOM	Early adult	3.52×10^-05
decreased total body fat amount	Sgsh^em3(IMPC)Tcp	HOM	Early adult	1.70×10^-07
increased bone mineral density	Sgsh^em3(IMPC)Tcp	HOM	Early adult	3.50×10^-05
increased bone mineral content	Sgsh^em3(IMPC)Tcp	HOM	Early adult	1.14×10^-08
increased circulating alkaline phosphatase level	Sgsh^em3(IMPC)Tcp	HOM	Early adult	8.53×10^-09

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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.

Histopathology

Images

18 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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Gross Pathology and Tissue Collection

Images

8 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Sgsh 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.

Human diseases associated with Sgsh (1 diseases)
Human diseases predicted to be associated with Sgsh (1509 diseases)

The table below shows human diseases associated to Sgsh by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Mucopolysaccharidosis, Type Iiia		Coarse hair, Hepatomegaly, Hyperactivity, Scoliosis, Hirsutism, Asymmetric septal hypertrophy, Sy...	OMIM:252900

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

Disease	Matching phenotypes	Source
Osteochondrosis Of The Metatarsal Bone	Pedal edema, Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Str...	ORPHA:564003
Mueller-Weiss Syndrome	Equinovarus deformity, Fragmented, irregular epiphyses, Talipes calcaneovarus, Abnormality of the...	ORPHA:566943
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol...	ORPHA:93405
Buschke-Ollendorff Syndrome	Osteopoikilosis, Lower limb asymmetry, Joint stiffness, Flexion contracture, Connective tissue nevi	OMIM:166700
Urofacial Syndrome 2	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro...	OMIM:615112
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elevated circulating C-reactive protein concentration, Pancytopenia, Arthritis, Elbow flexion con...	OMIM:604416
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Multiple lipomas, Abnormal cortical bon...	ORPHA:1879
Isolated Osteopoikilosis	Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar...	ORPHA:166119
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis, Dense metaphyseal bands, Metaphyseal dysplasia	OMIM:615198
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal vertebral morphology, Abnormal heart valve morphology, Abnormality of the ...	ORPHA:93476
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Adrenomyodystrophy	Abnormality of the urinary system, Megalocornea, Megacystis, Hepatic steatosis, Myopathy	ORPHA:977
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Immunodeficiency 69	Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom...	OMIM:618963
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,...	OMIM:127300
Sclerosteosis	Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increas...	ORPHA:3152
Immunodeficiency 27A	Anemia, Salmonella osteomyelitis, Leukocytosis, Hypoplasia of the femoral head, Hepatosplenomegal...	OMIM:209950
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli...	ORPHA:240
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract, Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga...	ORPHA:1972
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology, Diaphyseal u...	ORPHA:3416
Uncombable Hair Syndrome 2	Juvenile cataract, Uncombable hair, Pili canaliculi	OMIM:617251
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Joint stiffness, Dementia, Increased bone density w...	OMIM:136300
Dentin Dysplasia	Increased bone mineral density, Abnormal dental enamel morphology	ORPHA:1653
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis, Recurrent urinary tract infections, Nephrolithiasis, Fetal pyelectasis, Megacystis	OMIM:619365
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R...	OMIM:249700
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Atresia Of Urethra	Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux...	ORPHA:105
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d...	OMIM:166740
Mucopolysaccharidosis, Type Iiib	Coarse hair, Hepatomegaly, Hyperactivity, Hirsutism, Asymmetric septal hypertrophy, Synophrys, Ov...	OMIM:252920
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Hydronephrosis, Duplicated collecting system	OMIM:163850
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Hyperhomocystinemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Meg...	OMIM:617780
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myopic astigmatism, Hyperactivity, Scoliosis, Impulsivity, Frequent temper tantrums, Pulmonic ste...	OMIM:620141
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat...	ORPHA:75564
Otopalatodigital Syndrome Type 1	Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Increased bone mineral d...	ORPHA:90650
Galactosialidosis	Abnormal vertebral morphology, Corneal opacity, Abnormality of the vertebral column	ORPHA:351
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated...	OMIM:605274
Eiken Syndrome	Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabu...	ORPHA:79106
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Increased bone mineral density, Limb undergrowth, Splenomegaly...	ORPHA:2204
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu...	OMIM:616689
Macdermot-Winter Syndrome	Highly arched eyebrow, Camptodactyly of finger, Hydronephrosis, Low anterior hairline, Frontal up...	OMIM:247990
Brachyolmia Type 1, Hobaek Type	Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Cornea...	OMIM:271530
Hypotrichosis 4	Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia	OMIM:146550
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Abnormal heart morpholo...	ORPHA:1067
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Hepatomegaly, Corneal opacity	ORPHA:2432
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Beaking of vertebral bodies, Coarse hair, Hepatomegaly, Hyperactivity, Hirsutism,...	OMIM:252930
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Patholog...	OMIM:620366
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost...	OMIM:241520
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia	OMIM:620085
Megabladder, Congenital	Atrial septal defect, Multiple glomerular cysts, Fetal megacystis, Left ventricular noncompaction...	OMIM:618719
Winchester Syndrome	Hirsutism, Corneal opacity, Kyphosis	OMIM:277950
Melorheostosis	Increased bone mineral density, Arthritis, Hyperostosis, Lower limb asymmetry, Ectopic ossificati...	ORPHA:2485
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Thrombocytopenia, Hepatomegaly, Corneal opacity	ORPHA:1980
Mucopolysaccharidosis, Type Iiia	Coarse hair, Hepatomegaly, Hyperactivity, Scoliosis, Hirsutism, Asymmetric septal hypertrophy, Sy...	OMIM:252900
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Ghosal Hematodiaphyseal Dysplasia	Diaphyseal dysplasia, Increased bone mineral density, Refractory anemia, Myelofibrosis, Thrombocy...	OMIM:231095
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Finger dacty...	ORPHA:232
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplastic sacrum, Nail dystrophy, Ureterocele, Sparse axillary hair, Urethral stenosis, Sparse ...	OMIM:604292
Ring Chromosome 8 Syndrome	Hydronephrosis, Low posterior hairline, Abnormality of the ureter	ORPHA:1450
Sialidosis Type 2	Hepatomegaly, Corneal opacity, Ascites, Kyphosis, Flexion contracture, Skeletal muscle atrophy, S...	ORPHA:87876
Intermediate Osteopetrosis	Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Erlenmeyer ...	ORPHA:210110
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Brain-Lung-Thyroid Syndrome	Atrial septal defect, Hypospadias, Hyperactivity, Patent foramen ovale, Vesicoureteral reflux, Co...	ORPHA:209905
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey...	ORPHA:2891
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Woolly hair	OMIM:610476
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia	OMIM:246570
Mucolipidosis Type Iii	Abnormal aortic valve morphology, Abnormal form of the vertebral bodies, Abnormal heart valve mor...	ORPHA:577
Familial Visceral Myopathy	Hydroureter, Vesicoureteral reflux, Camptodactyly of finger, Anonychia, Aplasia/Hypoplasia of the...	ORPHA:2604
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Ringed Hair Disease	Fine hair, Abnormal hair pattern	ORPHA:169
Pili Bifurcati	Abnormality of hair texture, Abnormal hair morphology	ORPHA:720
2p15-16.1 microdeletion syndrome	Camptodactyly of finger, Hydronephrosis	DECIPHER:70
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal form of the vertebral bodies, Scoliosis, Corneal opacity, Abnormal cardiac septum morpho...	ORPHA:2370
Albers-Schönberg Osteopetrosis	Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morphology, Hypocalcemia...	ORPHA:53
Lethal Recessive Chondrodysplasia	Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized...	ORPHA:1423
8P23.1 Duplication Syndrome	Highly arched eyebrow, Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Ventricular septal...	ORPHA:251076
Juvenile Sialidosis Type 2	Abnormality of the kidney, Hepatomegaly, Abnormal form of the vertebral bodies, Generalized hyper...	ORPHA:93399
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, 3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Anemia, Flared metaphysis, Increased bon...	OMIM:259700
Pseudohypoparathyroidism Type 1B	Irritability, Hypocalcemic seizures, Diaphyseal sclerosis, Increased bone mineral density, Depres...	ORPHA:94089
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Bardet-Biedl Syndrome 19	Partial atrioventricular canal defect, Renal hypoplasia, Hydronephrosis, Hepatic steatosis, Atria...	OMIM:615996
Diastrophic Dysplasia	Abnormal metaphysis morphology, Short finger, Proximal placement of thumb, Abnormal metacarpal mo...	ORPHA:628
Slc35A2-Cdg	Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Aplasia/hypoplas...	ORPHA:356961
Combined Oxidative Phosphorylation Deficiency 34	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Pancytopenia	OMIM:617872
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Portal hypertension, Hydronephrosis, Megacystis, Hepatic failure	OMIM:619431
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocytopenia, Splenom...	OMIM:611490
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Scoliosis, Compulsive behaviors, Aplasia/Hypoplasia of the t...	ORPHA:1727
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract, Flexion contra...	OMIM:618815
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short...	OMIM:612447
Spondyloepiphyseal Dysplasia Tarda	Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os...	ORPHA:93284
Brachyolmia Type 1, Toledo Type	Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Intervertebral s...	OMIM:271630
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Polyuria, Megacystis	OMIM:125800
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Polyuria, Megacystis	OMIM:304800
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fine hair, Compulsive behaviors, Fragile nails	ORPHA:500166
Thrombotic Thrombocytopenic Purpura, Hereditary	Confusion, Tremor, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopa...	OMIM:274150
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Essential Thrombocythemia	Acute leukemia, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Abnorma...	ORPHA:3318
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Congenital Primary Megaureter	Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis...	ORPHA:617
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim...	OMIM:600785
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Absent pubic hair, Small nail, Spar...	ORPHA:189
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla...	OMIM:617805
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Osteopetrosis, Autosomal Dominant 1	Osteopetrosis, Calvarial osteosclerosis, Abnormal pelvic girdle bone morphology, Thickened cortex...	OMIM:607634
Heme Oxygenase 1 Deficiency	Thrombocytosis, Elevated circulating C-reactive protein concentration, Asplenia, Coombs-positive ...	OMIM:614034
Mucopolysaccharidosis, Type Vii	Cardiomyopathy, Corneal opacity, Kyphosis, Dermatan sulfate excretion in urine, Splenomegaly, Ant...	OMIM:253220
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Abnormality of the urinary system	ORPHA:2669
Poems Syndrome	Metaphyseal sclerosis, Clubbing of fingers, Sclerosis of hand bone, Sclerosis of foot bone, Polyc...	ORPHA:2905
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Anemia, Iron deficiency anemia, Clubbing of fingers, Clubbing, Hypoproteinemia, Hypoalbuminemia, ...	OMIM:226300
Kury-Isidor Syndrome	Sacral dimple, Astigmatism, Scoliosis, Hydronephrosis, Attention deficit hyperactivity disorder, ...	OMIM:619762
Asperger Syndrome, Susceptibility To, 1	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:608631
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis	OMIM:122860
Autism, Susceptibility To, X-Linked 3	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:300425
Drug-Induced Lupus Erythematosus	Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine kina...	ORPHA:231111
Autoimmune Hypoparathyroidism	Irritability, Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Confusion, Dep...	ORPHA:36913
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly	OMIM:300484
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Bowing of the long ...	OMIM:239000
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Visceral Myopathy 1	Pancreatitis, Vesicoureteral reflux, Hydronephrosis, Dysphagia, Megacystis, Urinary retention	OMIM:155310
Congenital Myopathy 19	Facial hypotonia, Scoliosis, Congenital contracture, Hydronephrosis, Skeletal muscle atrophy, Dys...	OMIM:618578
Ritscher-Schinzel Syndrome 1	Hypospadias, Hemivertebrae, Low posterior hairline, Pulmonic stenosis, Aortic valve stenosis, Hyd...	OMIM:220210
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Distal Duplication 6P	Sacral dimple, Abnormal hair quantity, Abnormal eyelash morphology, Renal hypoplasia, Hydronephro...	ORPHA:1745
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Butterfly vertebrae, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypos...	OMIM:301056
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Neoplasm of the heart, Megacystis, Hydroureter, Multicystic kidney dysplasia	ORPHA:2241
Trisomy 17P	High anterior hairline, Broad eyebrow, Hypoplasia of penis, Polycystic kidney dysplasia, Scoliosi...	ORPHA:261290
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Compulsive behaviors, Enuresis, Inflexible adherence to routines, Motor stereotypy, Attention def...	OMIM:613670
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic...	ORPHA:3344
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Primary Myelofibrosis	Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis, Hepatosplenomeg...	ORPHA:824
Autism	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:209850
Autism, Susceptibility To, 8	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:607373
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Astigmatism, Scoliosis, Kyphosis, Hydronephrosis, Frontal upsweep of hair	OMIM:619797
Congenital Rubella Syndrome	Jaundice, Hepatomegaly, Anemia, Aplasia/Hypoplasia of the iris, Corneal opacity, Thrombocytopenia...	ORPHA:290
Osteogenesis Imperfecta, Type Xiii	Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral metaphysis, Increa...	OMIM:614856
Chondrodysplasia, Blomstrand Type	Flared metaphysis, Squared iliac bones, Short ribs, Micromelia, Micrognathia, Advanced tarsal oss...	OMIM:215045
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Cognitive impairment, Thrombocyto...	OMIM:235400
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Abnormal vertebral morphology, Motor stereotypy	OMIM:618709
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia, Hypospadias, Small nail, Abnormal heart morphology, Dysphagia, M...	OMIM:300978
Carvajal Syndrome	Dilated cardiomyopathy, Woolly hair	ORPHA:65282
Osteopetrosis, Autosomal Recessive 2	Cranial hyperostosis, Osteopetrosis, Genu valgum, Anemia, Diaphyseal sclerosis, Pancytopenia, Rec...	OMIM:259710
Crandall Syndrome	Brittle hair, Hypoplasia of penis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair...	ORPHA:202
Recombinant Chromosome 8 Syndrome	Scoliosis, Camptodactyly, Low posterior hairline, Pulmonic stenosis, Hydronephrosis, Tetralogy of...	OMIM:179613
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A...	ORPHA:2838
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Pulmonic stenosis, Hydronephrosis, Hydroureter	OMIM:264140
Visceral Myopathy 2	Megacystis, Dysphagia	OMIM:619350
Celiac Disease, Susceptibility To, 1	Rickets, Iron deficiency anemia, Macrocytic anemia, Depression, Hypocalcemia, Osteoporosis, Ename...	OMIM:212750
Gómez-López-Hernández Syndrome	Alopecia of scalp, Corneal opacity, Toenail dysplasia	ORPHA:1532
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin...	OMIM:201170
Noonan Syndrome 9	Hydroureter, Curly hair, Pulmonic stenosis, Sparse eyebrow, Prominent corneal nerve fibers, Short...	OMIM:616559
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Absent pate...	OMIM:601559
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Hypopigmentation of hair, Scoliosis, Vesicoureteral reflux, Ve...	ORPHA:96169
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia,...	OMIM:613845
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Hypophosphatemia, Abnormal epiphysis morphology,...	ORPHA:89936
Fucosidosis	Anterior beaking of lumbar vertebrae, Abnormality of the gallbladder, Hepatomegaly, Abnormality o...	ORPHA:349
Morquio Syndrome C	Platyspondyly, Corneal opacity	OMIM:252300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis, Anuria, Fetal megacystis, Renal cortical hyperechogenicity, Peritonitis, Megacystis, P...	OMIM:619351
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Short ri...	OMIM:620076
Monilethrix	Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal eyelash morphology, Patchy alo...	ORPHA:573
Hurler-Scheie Syndrome	Hepatomegaly, Scoliosis, Hirsutism, Corneal opacity, Kyphosis, Dermatan sulfate excretion in urin...	OMIM:607015
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
X-Linked Dominant Chondrodysplasia Punctata	Kyphoscoliosis, Scarring alopecia of scalp, Abnormality of the nail, Microcornea, Abnormally ossi...	ORPHA:35173
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel...	OMIM:166600
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormal bone ossification, Abnormal femoral neck/head morphology, Increased bone mineral density...	ORPHA:163649
Gm1-Gangliosidosis, Type Iii	Anterior beaking of lumbar vertebrae, Hepatomegaly, Scoliosis, Kyphosis, Skeletal muscle atrophy,...	OMIM:230650
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the 5th finger, Hyperactivity, Highly arched eyebrow, Scoliosis, Compulsive ...	ORPHA:352490
Schnitzler Syndrome	Anemia, Increased bone mineral density, Arthritis, Leukocytosis, Splenomegaly	ORPHA:37748
Hurler Syndrome	Hepatomegaly, Hirsutism, Cardiomyopathy, Corneal opacity, Kyphosis, Dermatan sulfate excretion in...	OMIM:607014
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cataract, ...	OMIM:614876
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617787
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Low posterior hairline, Bone marrow hypocellularity, Leukopenia, Splenomegaly, N...	OMIM:617303
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies,...	ORPHA:1834
Trichothiodystrophy 6, Nonphotosensitive	Pes cavus, Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemoglobin, D...	OMIM:616943
Pseudohypoparathyroidism Type 1C	Short 4th metacarpal, Irritability, Calcinosis, Hypocalcemic seizures, Short metatarsal, Increase...	ORPHA:79444
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612926
Noonan Syndrome 4	High anterior hairline, Ureteral duplication, Scoliosis, Hypertrophic cardiomyopathy, Curly hair,...	OMIM:610733
Diabetic Embryopathy	Renal hypoplasia/aplasia, Transposition of the great arteries, Ureteral duplication, Abnormal sac...	ORPHA:1926
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Osteopenia, Abnormal foot morphology, Abnormal diaphysis morphol...	ORPHA:85184
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Back pain, Ureteropelvic junction obstructi...	OMIM:143400
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612924
Sialidosis Type 1	Increased urinary O-linked sialopeptides, Abnormal form of the vertebral bodies, Scoliosis, Corne...	ORPHA:812
Alpha-Mannosidosis	Hepatomegaly, Scoliosis, Corneal opacity, Kyphosis, Splenomegaly, Cataract, Short neck, Macroglossia	ORPHA:61
Trichodysplasia-Xeroderma Syndrome	Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb...	ORPHA:3361
Trichothiodystrophy 4, Nonphotosensitive	Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Small nail, Microcornea, Abno...	OMIM:234050
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Abnormal subcutaneous fat tissue distribution, Tremor, Intention tremor, Flexion cont...	OMIM:212065
Pseudohypoparathyroidism Type 1A	Reduced bone mineral density, Abnormal platelet function, Short metacarpal, Short 4th metacarpal,...	ORPHA:79443
Hyperprolinemia, Type I	Prolinuria, Hyperactivity, Hyperglycinuria, Hydroxyprolinuria, Motor stereotypy, Aggressive behavior	OMIM:239500
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis	OMIM:125440
Smith-Magenis syndrome	Hyperactivity, Self-mutilation, Motor stereotypy	DECIPHER:8
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Osteopetrosis, Hip subluxation, Irritability, Anemia, Hypochromic microcyti...	OMIM:259720
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy...	ORPHA:166016
Naxos Disease	Abnormality of hair texture, Cardiomyopathy, Sparse scalp hair, Woolly hair, Curly hair	ORPHA:34217
Renal Hypoplasia	Abnormal renal tubule morphology, Polydipsia, Unilateral renal agenesis, Recurrent urinary tract ...	ORPHA:93101
Neuroleptic Malignant Syndrome	Hyperkalemia, Oculogyric crisis, Hyperuricemia, Hypocalcemia, Tremor, Elevated circulating creati...	ORPHA:94093
Mucopolysaccharidosis, Type Iiid	Hyperactivity, Hypoplastic vertebral bodies, Splenomegaly, Dysphagia, Aggressive behavior, Agitat...	OMIM:252940
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Craniofrontonasal Dysplasia	Congenital diaphragmatic hernia, Hypospadias, Scoliosis, Abnormality of hair texture, Low posteri...	ORPHA:1520
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de...	ORPHA:289176
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria	ORPHA:79238
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap...	OMIM:135750
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Patent foramen ovale, Compulsive behaviors, Ren...	ORPHA:488618
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612925
Paternal Uniparental Disomy Of Chromosome 1	Progressive psychomotor deterioration, Abnormal dental enamel morphology, Episodic hemolytic anem...	ORPHA:251004
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, Left ventricular hypert...	OMIM:613424
Zellweger Syndrome	Jaundice, Hepatomegaly, Hypospadias, Wide anterior fontanel, Corneal opacity, Posterior embryotox...	ORPHA:912
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
3C Syndrome	Atrioventricular canal defect, Abnormal tricuspid valve morphology, Hypospadias, Iris coloboma, H...	ORPHA:7
Hereditary Bullous Dystrophy, Macular Type	Nail dystrophy, Corneal opacity, Atrichia, Abnormal heart morphology, Congenital abnormal hair pa...	ORPHA:1867
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi...	ORPHA:905
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Joint stiffness, Leukopenia, Lymph...	OMIM:615934
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Motor stereotypy	OMIM:300271
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Coarse hair, Nail dystrophy, High anterior hairline, Woolly scalp hair, Patent foramen ovale, Cor...	OMIM:620519
Erythrokeratodermia Variabilis	Abnormal hair morphology, Abnormality of the nail, Corneal opacity, Generalized hirsutism, Catara...	ORPHA:317
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Abnormal pelvic gi...	OMIM:144750
Cat-Eye Syndrome	Iris coloboma, Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney	ORPHA:195
Clouston Syndrome	Nail dysplasia, Nail dystrophy, Brittle hair, Absent pubic hair, Slow-growing hair, Small nail, A...	OMIM:129500
Woolly Hair, Autosomal Recessive 3	Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair	OMIM:616760
X-Linked Intellectual Disability, Schimke Type	Ankle flexion contracture, Elbow flexion contracture, Vesicoureteral reflux, Hip contracture, Hyd...	ORPHA:85285
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Kyphoscoliosis, Pancreatitis, Homocystinuria, Brittle hair, Scoliosis, Biconcave vertebral bodies...	OMIM:236200
Microcephaly-Micromelia Syndrome	Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi...	OMIM:251230
Ichthyosis, Congenital, Autosomal Recessive 11	Curly eyelashes, Brittle hair, Abnormality of the nail, Corneal opacity, Curly hair, Sparse eyela...	OMIM:602400
Woolly Hair Nevus	Woolly scalp hair, Persistent pupillary membrane, Heterochromia iridis, Curly hair, Congenital po...	ORPHA:79414
Pili Torti	Brittle hair, Abnormality of the nail, Abnormality of hair texture, Abnormal eyebrow morphology, ...	ORPHA:2889
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Perimembranous ventricular s...	OMIM:620662
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Nail dysplasia, Hepatomegaly, Scoliosis, Sparse eyelashes, Sparse eyebrow, Joint contracture, Ske...	OMIM:615704
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria, Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma	ORPHA:1473
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia...	OMIM:314390
Microphthalmia With Limb Anomalies	Sandal gap, Short long bone, Tibial bowing, Broad thumb, Joint hypermobility, Hip dislocation, Fi...	ORPHA:1106
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Abnormal vertebral morp...	ORPHA:210122
Koolen-De Vries Syndrome	Sacral dimple, Spondylolisthesis, Hyperactivity, Recurrent urinary tract infections, Scoliosis, V...	OMIM:610443
Trisomy 13	Scoliosis, Aplasia/Hypoplasia of the iris, Abnormal eyelash morphology, Kyphosis, Abnormality of ...	ORPHA:3378
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Keratan sulfate excretion in urine, Scoliosis, Hyperlordosis, Corneal opacity, Kyph...	OMIM:253010
Mosaic Trisomy 9	Dextrocardia, Abnormal liver lobulation, Hypoplasia of penis, Small nail, Abnormal heart valve mo...	ORPHA:99776
Hurler Syndrome	Abnormal vertebral morphology, Hepatomegaly, Abnormal heart valve morphology, Scoliosis, Abnormal...	ORPHA:93473
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Scoliosis, Kyphosis, Hydronephrosis, Bicuspid aortic valve, Self-injur...	OMIM:620511
Dysosteosclerosis	Osteopenia, Diaphyseal undertubulation, Clavicular sclerosis, Abnormal metaphyseal trabeculation,...	OMIM:224300
Congenital Sialidosis Type 2	Abnormality of the kidney, Hepatomegaly, Generalized hypertrichosis, Corneal opacity, Ascites, Ab...	ORPHA:93400
Mucopolysaccharidosis Type 3	Abnormal form of the vertebral bodies, Hyperactivity, Corneal opacity, Abnormal mitral valve morp...	ORPHA:581
Lattice Corneal Dystrophy Type I	Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification...	ORPHA:98964
Renal Dysplasia	Pelvic mass, Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary inco...	ORPHA:93108
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact...	OMIM:258860
Weaver Syndrome	Thin nail, Hypoplasia of penis, Scoliosis, Deep-set nails, Camptodactyly of finger, Abnormal fing...	ORPHA:3447
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Cardiomyopathy, Corneal opacity,...	ORPHA:354
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Agitation, Motor stereotypy, Aggressive behavior	OMIM:617171
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Hyperlordosis, Camptodactyly, Curly hair, Thrombocytopenia, Sparse ...	OMIM:619980
Hereditary Mucoepithelial Dysplasia	Hematuria, Abnormality of the bladder, Corneal dystrophy, Sparse hair, Cataract, Fine hair, Alopecia	ORPHA:1839
Multiple Sulfatase Deficiency	Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Thick eyebrow, Splenomegaly, Cataract, Coar...	ORPHA:585
Intellectual Disability, Buenos-Aires Type	Hyperconvex thumb nails, Abnormal fingernail morphology, Hydronephrosis, Cuboid-shaped thoracolum...	ORPHA:3079
8P Inverted Duplication/Deletion Syndrome	Frontal balding, Dextrocardia, Scoliosis, Impulsivity, Synophrys, Short neck, Hydronephrosis, Abn...	ORPHA:96092
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Enamel hypomineralization, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped...	OMIM:307800
Joubert Syndrome 37	Hepatomegaly, Hydronephrosis, Sparse hair, Micropenis, Lumbar hyperlordosis	OMIM:619185
Majeed Syndrome	Hypochromic microcytic anemia, Increased bone mineral density, Leukocytosis, Synovitis, Flexion c...	ORPHA:77297
Monilethrix	Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia	OMIM:158000
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Depression, Emotional lability, Joint hemorrhage, Autoimmune thromboc...	ORPHA:324636
Cardiofaciocutaneous Syndrome 2	Absent eyebrow, Curly hair, Sparse hair, Mitral valve prolapse, Fine hair	OMIM:615278
Sulfite Oxidase Deficiency, Isolated	Agitation, Decreased urinary sulfate, Ectopia lentis, Sulfocysteinuria, Increased urinary sulfite...	OMIM:272300
Mucopolysaccharidosis Type 1	Abnormal aortic valve morphology, Abnormal tendon morphology, Abnormal form of the vertebral bodi...	ORPHA:579
Immunodeficiency 92	Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt...	OMIM:619652
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Pancreatic lymphangiectasis, Ascites, Hydronephrosis, Splenomegaly, Pulmonary lymph...	OMIM:235255
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Rhizomelia, Sandal gap, Hypocalcemia, Short ribs, Short humerus, Short ...	OMIM:607143
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal renal morphology, Pancreatic lymphangiectasis, Ascites, Hydronephrosis, He...	ORPHA:1655
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease...	OMIM:615559
Chromosome 15Q11-Q13 Duplication Syndrome	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:608636
Nephronophthisis 19	Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Hyperecho...	OMIM:616217
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
Dysosteosclerosis	Abnormal metaphysis morphology, Craniofacial hyperostosis, Increased bone mineral density, Abnorm...	ORPHA:1782
Chops Syndrome	Cervical C2/C3 vertebral fusion, Thick hair, Patent foramen ovale, Vesicoureteral reflux, Anomalo...	OMIM:616368
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Patent foramen ovale, Scoliosis, Renal hypoplasia, Hydronephrosis, Abn...	OMIM:618494
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Cataract, Scoliosis, Joint contracture, Motor stereotypy	OMIM:617393
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia, Thrombocytopenia	ORPHA:1237
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Suleiman-El-Hattab Syndrome	Highly arched eyebrow, Patent foramen ovale, Hirsutism, Synophrys, Frontal hirsutism, Hydronephro...	OMIM:618950
Cystinosis	Polydipsia, Nephropathy, Corneal opacity, Portal hypertension, Proteinuria, Motor stereotypy, Ren...	ORPHA:213
Fanconi Anemia, Complementation Group O	Renal cyst, Hydronephrosis, Abnormal heart morphology, Stage 5 chronic kidney disease, Small then...	OMIM:613390
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Scoliosis, Hyperlordosis, Recurrent hand flapping, Compulsive behaviors, Curly hair, Mitral valve...	OMIM:300986
Multicentric Carpotarsal Osteolysis Syndrome	Congenital diaphragmatic hernia, Corneal opacity, Proteinuria, Bilateral renal atrophy, Stage 5 c...	OMIM:166300
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:614817
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Unilateral renal agenesis, Corneal opacity, Attention deficit hyperactivity disor...	ORPHA:281090
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Back pain, Multiple renal cysts, Abnormality of the pancreas	ORPHA:2924
Distal Triplication 15Q	Abnormality of the kidney, Polycystic kidney dysplasia, Scoliosis, Corneal dystrophy, Camptodacty...	ORPHA:314588
Harel-Yoon Syndrome	Scoliosis, Distal amyotrophy, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract	OMIM:617183
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Cardiofaciocutaneous Syndrome 3	Scoliosis, Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Short neck, Atrial septal ...	OMIM:615279
Wolfram Syndrome 1	Hydroureter, Neurogenic bladder, Megaloblastic anemia, Cardiomyopathy, Sideroblastic anemia, Hydr...	OMIM:222300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Muscular dystrophy, Corneal opacity, Low anterior hairline, Left ventricular hypertrophy, Cataract	OMIM:613153
Vacterl/Vater Association	Congenital diaphragmatic hernia, Abnormality of the gallbladder, Ectopic kidney, Hypospadias, Hyp...	ORPHA:887
Cardiofaciocutaneous Syndrome 4	Alopecia of scalp, Ventricular septal hypertrophy, Abnormal aortic valve morphology, Scoliosis, C...	OMIM:615280
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Nodular regenerative hyp...	OMIM:620454
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Brittle hair, Hypertrophic cardiomyopathy, Sparse eyebrow, Developmental cataract, ...	OMIM:618810
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Coarse hair, Astigmatism, Anemia, Pancytopenia, Thoracic kyphosis, Fo...	OMIM:242900
Syndromic Diarrhea	Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic valve, Brittle hair, Polycy...	ORPHA:84064
Spondyloepimetaphyseal Dysplasia, Missouri Type	Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low...	ORPHA:93356
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Cardiomegaly, Fa...	OMIM:269920
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, C...	OMIM:608836
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Kyphoscoliosis, Hyperactivity, Patent foramen ovale, Hyposegmentation of neutrophil nuclei, Curly...	OMIM:620075
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Hawkinsinuria	4-hydroxyphenylacetic aciduria, Fine hair, Sparse hair, 4-Hydroxyphenylpyruvic aciduria	ORPHA:2118
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Nail dystrophy, Brittle hair, Renal hypoplasia, Atrial septal defect, Ventricular septal defect, ...	ORPHA:75389
Beta-Ketothiolase Deficiency	Hyperammonemia, Thrombocytosis, Leukocytosis, Hyperuricemia	ORPHA:134
Hypodontia-Dysplasia Of Nails Syndrome	Hypoplastic fingernail, Abnormality of the nail, Abnormal fingernail morphology, Fragile nails, T...	ORPHA:2228
Mucopolysaccharidosis, Type Iva	Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Hepatomegaly, Keratan sulfate excretion in...	OMIM:253000
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cataract, Ventricular septal defect, Cystic renal dysplasia	OMIM:613730
Angioma Serpiginosum, X-Linked	Nail dystrophy, Fine hair, Sparse hair	OMIM:300652
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Trichohepatoenteric Syndrome 2	Trichorrhexis nodosa, Cirrhosis, Hepatomegaly, Brittle hair, Uncombable hair, Woolly hair, Chroni...	OMIM:614602
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Hypospadias, Ascites, Hypertrophic cardiomyopathy, Hydronephrosis, Flexion contrac...	OMIM:616897
Carpenter Syndrome 1	Transposition of the great arteries, Hydroureter, Sacral dimple, Spina bifida occulta, Scoliosis,...	OMIM:201000
Kleefstra Syndrome	Aggressive behavior, Hypospadias, Supernumerary nipple, Hypoplasia of penis, Highly arched eyebro...	ORPHA:261494
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hypoplasia of the iris, Hydronephrosis, Sclerocornea, Limbal dermoid, Atrial septa...	OMIM:613001
Pycnodysostosis	Short finger, Rhizomelia, Increased bone mineral density, Hypoplastic iliac wing, Osteolytic defe...	ORPHA:763
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Proteinuria, Renal amyloidosis, Splenom...	OMIM:105200
Intellectual Developmental Disorder With Autism And Speech Delay	Motor stereotypy	OMIM:606053
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	3-Methylglutaconic aciduria, Lower limb amyotrophy, Scoliosis, Corneal opacity, Hypertrophic card...	ORPHA:496790
Robin Sequence With Cleft Mandible And Limb Anomalies	Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Congenital Disorder Of Glycosylation, Type Iie	Decreased liver function, Perimembranous ventricular septal defect, Jaundice, Hepatomegaly, Neuro...	OMIM:608779
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly	OMIM:258865
Zaki Syndrome	Congenital diaphragmatic hernia, Sacral dimple, Patent foramen ovale, Scoliosis, Sparse scalp hai...	OMIM:619648
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abnormality of the kidney, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	ORPHA:369
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Small nail, Hyperactivity, Elbow flexion contracture, Motor stereotypy, Aggressive behavior	OMIM:619470
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Trisomy 20P	Abnormality of the kidney, Hypospadias, Thick hair, Abnormal form of the vertebral bodies, Highly...	ORPHA:261318
Thiel-Behnke Corneal Dystrophy	Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop...	ORPHA:98960
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Kyphoscoliosis, Abnormal vertebral morphology, Increased vertebral height, Hyperlordosis, Renal h...	OMIM:616817
Trichohepatoenteric Syndrome 1	Abnormality of iron homeostasis, Thrombocytosis, Hypergalactosemia, Cognitive impairment, Increas...	OMIM:222470
Urofacial Syndrome 1	Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ...	OMIM:236730
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange...	ORPHA:2378
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff...	ORPHA:84085
Cataract 21, Multiple Types	Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I...	OMIM:610202
Ochoa Syndrome	Polydipsia, Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesic...	ORPHA:2704
Cockayne Syndrome Type 3	Premature graying of hair, Elevated circulating hepatic transaminase concentration, Cardiomyopath...	ORPHA:90324
ERI1-related disease	Increased vertebral height, Scoliosis, Vesicoureteral reflux, Hydronephrosis, Abnormal heart morp...	OMIM:608739
Netherton Syndrome	Trichorrhexis nodosa, Ectopic kidney, Abnormal hair morphology, Sparse scalp hair, Sparse eyelash...	ORPHA:634
Johanson-Blizzard Syndrome	Anemia, Dextrocardia, Hypospadias, Hypoplasia of penis, Alopecia, Hydronephrosis, Exocrine pancre...	ORPHA:2315
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerular sclerosis, Synophrys, Nephrotic syndrome, Proteinuria, Motor stereotypy, ...	OMIM:619428
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Musculocontractural Ehlers-Danlos Syndrome	Kyphoscoliosis, Astigmatism, Abnormal heart valve morphology, Scoliosis, Nephrolithiasis, Abnorma...	ORPHA:2953
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly	OMIM:615085
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt...	OMIM:243150
Atelosteogenesis Type Iii	Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Laryngotra...	ORPHA:56305
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent foramen ovale, Compulsive behaviors, Developmental cataract, Motor stereotypy, Attention d...	OMIM:617044
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Scoliosis, Microcornea, Kyphosis, Hydronephrosis, Sparse hair, Cataract, Atrial sept...	OMIM:616449
9Q21.13 Microdeletion Syndrome	Scoliosis, Hydronephrosis, Abnormal heart morphology, Vertebral segmentation defect	ORPHA:531151
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Delayed epiphyseal ossification, Hypocalcemia, Enlargement of the ankles...	OMIM:600081
Idiopathic Hypereosinophilic Syndrome	Ankle swelling, Anemia, Memory impairment, Arthritis, Confusion, Clubbing, Myelofibrosis, Myelopr...	ORPHA:3260
Sjogren-Larsson Syndrome	Opacification of the corneal epithelium, Astigmatism, Abnormal hair morphology, Abnormality of th...	OMIM:270200
Smith-Magenis Syndrome	Hyperactivity, Abnormal renal morphology, Scoliosis, Head-banging, Self hugging, Synophrys, Abnor...	OMIM:182290
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Mucopolysaccharidosis Type 7	Anterior beaking of lumbar vertebrae, Scoliosis, Corneal opacity, Ascites, Mucopolysacchariduria,...	ORPHA:584
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Macronodular cirrhosis, Pr...	OMIM:215250
Khan-Khan-Katsanis Syndrome	Trichiasis, Ureteral duplication, Sacral dimple, Anemia, Highly arched eyebrow, Patent foramen ov...	OMIM:618460
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Recurrent hand flapping, Dysphagia, Motor stereotypy	OMIM:617862
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Unicoronal sy...	OMIM:616300
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hepatomegaly, Abnormal heart valve morphology, Scoliosis, Vacuolated...	OMIM:230500
Mitochondrial Complex I Deficiency, Nuclear Type 18	Wide anterior fontanel, Hydronephrosis, Hydroureter	OMIM:618240
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro...	OMIM:191800
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Arthrogryposis multiplex congenita, Motor stereotypy	OMIM:615282
Marden-Walker Syndrome	Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Kyphosis, Abnormality of the kid...	ORPHA:2461
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Aggressive behavior, Motor stereotypy, Pica	OMIM:617270
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Mucoepithelial Dysplasia, Hereditary	Nail dysplasia, Corneal neovascularization, Nail dystrophy, Hematuria, Chronic monilial nail infe...	OMIM:158310
Leber Congenital Amaurosis 1	Hepatomegaly, Eye poking, Keratoconus, Hyperthreoninuria, Cataract	OMIM:204000
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentratio...	OMIM:619048
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
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Obsessive-compulsive trait, Astigmatism, Hypospadias, Hyperactivity, Hyperopic astigmatism, Inapp...	ORPHA:363686
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Shor...	OMIM:620306
Joubert Syndrome 35	Highly arched eyebrow, Recurrent urinary tract infections, Renal fibrosis, Synophrys, Hydronephro...	OMIM:618161
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Hepatomegaly, Anterior wedging of L2, Hirsutism, Cardiomyopathy, Corneal opacity,...	OMIM:253200
3-Hydroxy-3-Methylglutaric Aciduria	Anemia, Hyperuricemia, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytosis	ORPHA:20
Mucolipidosis Iv	Abnormal abdomen morphology, Opacification of the corneal stroma, Corneal opacity	OMIM:252650
Hypotrichosis 7	Brittle hair, Abnormal sweat gland morphology, Abnormality of the nail, Sparse scalp hair, Woolly...	OMIM:604379
Interstitial Lung And Liver Disease	Anemia, Clubbing, Intraalveolar phospholipid accumulation, Hyperammonemia, Thrombocytosis	OMIM:615486
Orthostatic Hypotension 1	Increased blood urea nitrogen, Hypomagnesemia, Brachydactyly, Joint hypermobility, Elevated circu...	OMIM:223360
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, Hyperactivity, Synophrys, Tetralogy of Fallot, Motor stereotypy, Ventr...	ORPHA:3306
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Cataract, ...	OMIM:256550
Posterior Urethral Valve	Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no...	ORPHA:93110
6P22 Microdeletion Syndrome	Short neck, Hydronephrosis	ORPHA:251046
Brunet-Wagner Neurodevelopmental Syndrome	Thin eyebrow, Self-injurious behavior, Low anterior hairline, Motor stereotypy	OMIM:619690
Diamond-Blackfan Anemia 1	Hypoplasia of the radius, Hypoplastic coccygeal vertebrae, 11 pairs of ribs, Triphalangeal thumb,...	OMIM:105650
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Ectopic kidney, Spina bifida occulta, ...	OMIM:235510
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/...	ORPHA:988
Omodysplasia 1	Limited elbow extension, Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Limited ...	OMIM:258315
Microphthalmia, Lenz Type	Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Scoliosis, Hyperlordosis, Microcornea, Kyphos...	ORPHA:568
Intellectual Developmental Disorder, Autosomal Recessive 39	Kyphoscoliosis, Hyperactivity, Synophrys, Motor stereotypy, Aggressive behavior	OMIM:615541
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Cardiom...	OMIM:613313
Czeizel-Losonci Syndrome	Dextrocardia, Congenital megaureter, Spina bifida occulta, Hypoplastic nipples, Aplasia of the le...	ORPHA:2437
Uncombable Hair Syndrome 3	Curly hair, Uncombable hair, Pili canaliculi, Brittle hair	OMIM:617252
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Irritability, Hypocalcemic seizures, Fibular bowing, Delayed epiphyseal ossification, Hy...	OMIM:264700
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Scoliosis, Hyperlordosis, Corneal opacity, Kyphosis, Mucopolysac...	ORPHA:582
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis, Small nail	OMIM:235760
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Diaphyseal cortical sclerosis, Osteopenia, Metaphyseal striations, Fractures of the long bones, P...	OMIM:112250
Aa Amyloidosis	Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Cholestasis, Nephr...	ORPHA:85445
Camurati-Engelmann Disease	Genu valgum, Anemia, Diaphyseal sclerosis, Increased bone mineral density, Cortical thickening of...	OMIM:131300
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Joint contracture of the 5th finger, Scoliosis, Kyphosis, Camptodactyly of finger, ...	ORPHA:1883
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Ren...	ORPHA:79312
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Lumbar platyspondyly, Increased intervertebral space, Corneal opacit...	OMIM:618961
Developmental And Epileptic Encephalopathy 107	Motor stereotypy	OMIM:620033
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, ...	OMIM:612158
Tangier Disease	Nail dysplasia, Nail dystrophy, Hepatomegaly, Distal amyotrophy, Facial diplegia, Splenomegaly, L...	OMIM:205400
Schwartz-Jampel Syndrome	Flexion contracture of toe, Abnormally ossified vertebrae, Wrist flexion contracture, Joint stiff...	ORPHA:800
Caffey Disease	Subperiosteal bone formation, Tibial bowing, Calvarial hyperostosis, Cortical irregularity, Perio...	OMIM:114000
Image Syndrome	Hydronephrosis, Hypospadias	ORPHA:85173
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Frontometaphyseal Dysplasia 1	Ankle flexion contracture, Hydroureter, Cervical C2/C3 vertebral fusion, Fused cervical vertebrae...	OMIM:305620
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Hydronephrosis, Skeletal muscle atrophy, Dilated cardiomyopat...	OMIM:607598
Polycythemia Vera	Acute leukemia, Myelofibrosis, Leukocytosis, Polycythemia, Splenomegaly, Thrombocytosis	ORPHA:729
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Panniculitis, Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Arthri...	OMIM:615688
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia, Developmental glaucoma, Atrioventricular canal defect, Hypospadi...	ORPHA:2409
Costello Syndrome	Abnormal hair morphology, Keratoconus, Thickened Achilles tendon, Hypertrophic cardiomyopathy, Pu...	ORPHA:3071
Pili Torti-Onychodysplasia Syndrome	Nail dystrophy, Brittle hair, Absent eyelashes, Absent eyebrow, Conjunctival hyperemia, Sparse bo...	ORPHA:2890
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Diaphyseal sclerosis, Hypocalcemia, Cognitive impairment, Metaphyseal widening, Er...	OMIM:618476
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hypo...	OMIM:301045
Fish-Eye Disease	Lymphadenopathy, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:79292
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,...	OMIM:617319
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, A...	OMIM:269600
19Q13.11 Microdeletion Syndrome	Nail dysplasia, Hypospadias, Sparse or absent eyelashes, Microcornea, Sparse lateral eyebrow, Spa...	ORPHA:217346
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response	OMIM:617028
Microcephaly 26, Primary, Autosomal Dominant	Scoliosis, Patent foramen ovale, Stereotypical hand wringing, Hydronephrosis, Prominent eyelashes	OMIM:619179
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Kyphosis, Opacification of the corneal stroma, Mucopolysaccharid...	ORPHA:583
Ectodermal Dysplasia 4, Hair/Nail Type	Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ...	OMIM:602032
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Highly arched eyebrow, Camptodactyly of finger, Hydronephrosis, Abnormal hai...	ORPHA:2083
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Bence Jones Proteinuria, Lymphadenopathy, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o...	OMIM:300554
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Cholelithiasis, Scoliosis, Male urethral meatus stenosis, Microcornea, Sparse scalp ...	ORPHA:464738
Schimke Immuno-Osseous Dysplasia	Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis...	ORPHA:1830
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Hepatomegaly, Splenomegaly, Motor stereotypy	OMIM:615637
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis, Scoliosis, Kyphosis, Hypertrophic cardiomyopathy,...	OMIM:618234
Femoral-Facial Syndrome	Abnormal fibula morphology, Inguinal hernia, Abnormal pelvic girdle bone morphology, Coxa vara, A...	ORPHA:1988
Otopalatodigital Syndrome Type 2	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Short h...	ORPHA:90652
Developmental And Epileptic Encephalopathy 58	Motor stereotypy	OMIM:617830
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Megaloblastic anemia, Sideroblastic anemia, Hydronephrosis, Thrombocytopenia, Neutro...	OMIM:598500
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Wide anterior fontanel, ...	OMIM:606003
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Slow-growing hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair	OMIM:129490
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Multilobulated spleen, Hypoplastic left atrium, Pelvic kidney, T...	OMIM:601186
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Long eyebrows, Low posterior hairline, Hypertrophic cardiomyopa...	OMIM:613224
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Left ventricular hypertrophy, Short n...	OMIM:615355
Diamond-Blackfan Anemia	Triphalangeal thumb, Acute myeloid leukemia, Normochromic anemia, Erythroid hypoplasia, Elevated ...	ORPHA:124
Hypotrichosis 8	Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse eyebrow, Nail ...	OMIM:278150
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy	OMIM:602390
Intellectual Developmental Disorder, Autosomal Dominant 48	Hypospadias, Hyperactivity, Highly arched eyebrow, Scoliosis, Synophrys, Motor stereotypy, Bicusp...	OMIM:617751
Dysostosis, Stanescu Type	Abnormal metaphysis morphology, Increased bone mineral density, Abnormal dental enamel morphology...	ORPHA:1798
Occipital Horn Syndrome	Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobility, Aplastic ...	ORPHA:198
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Scarring alopecia of scalp, Cholestasis, Sparse scalp hair, Portal hypert...	ORPHA:59303
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ...	OMIM:614921
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperl...	ORPHA:369840
Vitamin D-Dependent Rickets, Type 2A	Rickets, Irritability, Hypocalcemic seizures, Fibular bowing, Delayed epiphyseal ossification, En...	OMIM:277440
Cronkhite-Canada Syndrome	Anorexia, Hypoplastic toenails, Dystrophic fingernails, Hepatomegaly, Anemia, Dystrophic toenail,...	ORPHA:2930
Uremic Pruritus	Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia, Renal hypophosphatemia	ORPHA:94059
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Alopecia	ORPHA:100025
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Hypospadias, Highly arched eyebrow, Patent foramen ovale, Scoliosis, Abnormal heart morphology, M...	ORPHA:500159
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Fine hair, Sparse hair	ORPHA:1174
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Agitation, Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Attention deficit hyper...	OMIM:152950
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Iris coloboma, Abnormality of the nail...	ORPHA:2092
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal hair morphology, Hypoplasia of penis, Slow-growing hair, Uncombable hair, Kyphosis, Apla...	ORPHA:3082
Mucolipidosis Type Iii Alpha/Beta	Kyphoscoliosis, Keratan sulfate excretion in urine, Diastasis recti, Corneal opacity, Flexion con...	ORPHA:423461
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop...	OMIM:615415
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Astigmatism, Unilateral renal agenesis, Hypospadias, Pelvic kidney, Sc...	ORPHA:464311
Giant Axonal Neuropathy	Pili canaliculi, Scoliosis, Facial palsy, Woolly hair, Limb muscle weakness, Abnormality of the A...	ORPHA:643
Chondrodysplasia Punctata 2, X-Linked Dominant	Kyphoscoliosis, Scoliosis, Hemivertebrae, Patchy alopecia, Punctate vertebral calcifications, Spa...	OMIM:302960
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Dental enamel pits, Finger clinodactyly, Enamel hypomineralization	ORPHA:3352
Choroidal Atrophy-Alopecia Syndrome	Sparse or absent eyelashes, Abnormal fingernail morphology, Abnormal toenail morphology, Bifid na...	ORPHA:1433
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal hair morphology, Abnormal fingernail morphology, Abnormal toenail morphology, Fine hair,...	ORPHA:248
2Q23.1 Microdeletion Syndrome	Hypoplasia of penis, Hyperactivity, Highly arched eyebrow, Polyphagia, Synophrys, Generalized hir...	ORPHA:228402
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Fused cervical vertebrae, Spina bifida occulta, Scoliosis, Vesicoureteral ...	OMIM:607323
Cerebellar-Facial-Dental Syndrome	Limb hypertonia, Foot joint contracture, Scoliosis, Sparse eyebrow, Ureteropelvic junction obstru...	ORPHA:444072
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Joint contracture of the 5th finger, Patent foramen ovale, Joint contracture of the 4th finger, I...	OMIM:618914
Congenital Disorder Of Glycosylation, Type Iig	Kyphoscoliosis, Butterfly vertebrae, Hemolytic-uremic syndrome, Hypospadias, Giant platelets, Ane...	OMIM:611209
Tetrasomy 15Q26	Kyphoscoliosis, Camptodactyly, Hydronephrosis, Atrial septal defect, Horseshoe kidney	OMIM:614846
Blepharophimosis-Impaired Intellectual Development Syndrome	Hypospadias, Aplastic/hypoplastic toenail, Highly arched eyebrow, Recurrent urinary tract infecti...	OMIM:619293
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Long eyelashes, Horizontal eyebrow, Hydronephrosis, Attention deficit ...	OMIM:609757
Cat Eye Syndrome	Tricuspid atresia, Iris coloboma, Biliary atresia, Vesicoureteral reflux, Total anomalous pulmona...	OMIM:115470
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hypoplastic toenails, He...	OMIM:616589
Mucopolysaccharidosis Type 2	Hyperactivity, Cardiomyopathy, Corneal opacity, Impulsivity, Abnormal mitral valve morphology, Ab...	ORPHA:580
Ectodermal Dysplasia-Syndactyly Syndrome 1	Coarse hair, Small nail, Patchy alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenai...	OMIM:613573
Kabuki Syndrome	Congenital diaphragmatic hernia, Butterfly vertebrae, Renal hypoplasia/aplasia, Hypospadias, Dupl...	ORPHA:2322
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hepatomegaly, Hypospadias, Wide anterior fontanel, Intrahepatic biliary dysgenesis, Prolonged neo...	OMIM:214100
Intellectual Developmental Disorder, Autosomal Recessive 71	Unilateral renal agenesis, Motor stereotypy, Attention deficit hyperactivity disorder, Ventricula...	OMIM:618504
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair	OMIM:234030
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis, Anemia, Leukocytosis, Abnormality of thrombocytes, Hepatosplenomegaly, Splenomegal...	OMIM:612840
Roifman Syndrome	Biconvex vertebral bodies, Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Hip contr...	OMIM:616651
Leopard Syndrome 3	Abnormal aortic valve morphology, Low posterior hairline, Curly hair, Abnormal mitral valve morph...	OMIM:613707
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Inappropriate laughter, Bruxism, Motor stereotypy, Aggressive behavior	OMIM:619150
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Thrombocytosis, Elevated circulating C-reactive protein concentration, Iron deficiency anemia, Ly...	OMIM:301074
X-Linked Intellectual Disability Due To Gria3 Mutations	Facial hypotonia, Scoliosis, Kyphosis, Hydronephrosis, Abnormality of muscle size, Micropenis, Se...	ORPHA:364028
Cardiofaciocutaneous Syndrome 1	Tongue thrusting, Slow-growing hair, Scoliosis, Absent eyelashes, Hypertrophic cardiomyopathy, Ab...	OMIM:115150
Cockayne Syndrome Type 1	Scarring, Anemia, Foot joint contracture, Tremor, Increased blood urea nitrogen, Enamel hypoplasia	ORPHA:90321
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Astigmatism, Unilateral renal agenesis, Hypospadias, Hyperactivity, Pelvic kid...	ORPHA:464306
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, Brittle hair, B lymphocytopenia, Cardiomyopathy, Sideroblastic ane...	OMIM:616084
Micro Syndrome	Hypoplasia of penis, Scoliosis, Microcornea, Kyphosis, Hydronephrosis, Generalized hirsutism, Abn...	ORPHA:2510
Developmental And Epileptic Encephalopathy 66	Astigmatism, Anemia, Dextrocardia, Synophrys, Motor stereotypy, Atrial septal defect, Ventricular...	OMIM:618067
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Inappropriate behavior, Urinary incontinence, Disinhibition, Restlessness, Motor stereotypy, Aggr...	OMIM:600795
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Wide anterior fontanel, Sy...	OMIM:619064
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Splenomegaly, Sparse hair, Cardiomegaly, Beaking of vertebral bodies T12-L3, Bri...	OMIM:252500
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis, Micrognathia, Clinodactyly of the 5th finger	OMIM:617306
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia...	OMIM:613404
Cardiofaciocutaneous Syndrome	Dystrophic fingernails, Sparse or absent eyelashes, Brittle hair, Slow-growing hair, Abnormal hea...	ORPHA:1340
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Monocytosis, Recurrent urinary tract infections, Lymp...	OMIM:612541
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Hyperactivity, Aortic valve stenosis, Aggressive behavior, Sacra...	ORPHA:96121
Noonan Syndrome 7	Scoliosis, Hypertrophic cardiomyopathy, Low posterior hairline, Pulmonic stenosis, Curly hair, Im...	OMIM:613706
Noonan Syndrome 5	Small nail, Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Sparse eyebrow, Short nec...	OMIM:611553
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Anemia, Abnormality of the medullary cavity of the long bones, Increa...	OMIM:127000
Werner Syndrome	Rocker bottom foot, Lipoatrophy, Increased bone mineral density, Osteoporosis, Joint stiffness, L...	ORPHA:902
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:251290
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o...	OMIM:241530
Olmsted Syndrome 1	Nail dysplasia, Nail dystrophy, Corneal opacity, Flexion contracture, Sparse hair, Subungual hype...	OMIM:614594
Alg9-Cdg	Enlarged kidney, Low posterior hairline, Abnormal heart morphology, Right ventricular dilatation,...	ORPHA:79328
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Motor stereotypy	OMIM:617820
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Osteopetrosis, Increased bone mineral density, Large iliac wing, ...	ORPHA:2780
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:93474
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Distal symphalangism, Micrognathia, Elevated circulating creatinin...	OMIM:154230
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri...	OMIM:212093
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia/Hypoplasia of ...	ORPHA:3320
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Chromosome 5P13 Duplication Syndrome	Astigmatism, Scoliosis, Vesicoureteral reflux, Compulsive behaviors, Low posterior hairline, Moto...	OMIM:613174
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Frontal upsweep of hair, Scoliosis, Hirsutism, Scapular winging, Compulsive behaviors, Kyphosis, ...	OMIM:617061
Vulto-Van Silfhout-De Vries Syndrome	Sacral dimple, Aggressive behavior, Horizontal eyebrow, Fine hair, Widow's peak	OMIM:615828
N-Acetylaspartate Deficiency	Self-mutilation, Motor stereotypy	OMIM:614063
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse eyebrow, Fine hair, Alopecia	ORPHA:1882
Alagille Syndrome	Renal hypoplasia/aplasia, Hepatomegaly, Butterfly vertebral arch, Abnormal form of the vertebral ...	ORPHA:52
Fg Syndrome 3	Hyperactivity, Joint contracture, Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Brucellosis	Anemia, Hip osteoarthritis, Elevated circulating C-reactive protein concentration, Depression, Kn...	ORPHA:1304
Sialuria	Hepatomegaly, Increased level of N-acetylneuraminic acid in urine, Scoliosis, Hirsutism, Hypoplas...	OMIM:269921
Craniometaphyseal Dysplasia	Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis	ORPHA:1522
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcytic ...	OMIM:301040
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Trichodental Dysplasia	Slow-growing hair, Fine hair, Sparse hair, Brittle hair	OMIM:601453
Bazex-Dupré-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Sparse eyebrow,...	ORPHA:113
Chromosome 17Q12 Deletion Syndrome	Nail dysplasia, Nail dystrophy, Elevated circulating hepatic transaminase concentration, Small na...	OMIM:614527
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Acro-Renal-Ocular Syndrome	Renal hypoplasia/aplasia, Iris coloboma, Microcornea, Vesicoureteral reflux, Vertebral segmentati...	ORPHA:959
Marie Unna Hereditary Hypotrichosis	Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al...	ORPHA:444
Naxos Disease	Nail dystrophy, Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabec...	OMIM:601214
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Corneal opacity, Proteinuria, Stage 5 ...	ORPHA:650
Pelvis-Shoulder Dysplasia	Prominent protruding coccyx, Facial hirsutism, Abnormal form of the vertebral bodies, Microcornea...	ORPHA:2839
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Hypospadias, Dysplastic pulmonary valve, Recurrent urinary tract infections, Head-banging, Vesico...	OMIM:619103
Propionic Acidemia	Cardiomyopathy, Hepatomegaly, Organic aciduria	ORPHA:35
Cleidocranial Dysplasia 1	Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ...	OMIM:119600
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, Hypospadias, Hypoplasia of penis, Hemivertebrae, Sclerocornea, Ven...	ORPHA:77298
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri...	ORPHA:96334
Hypotrichosis 12	Sparse or absent eyelashes, Abnormal sweat gland morphology, Slow-growing hair, Abnormality of th...	OMIM:615885
Cri-Du-Chat Syndrome	Premature graying of hair, Abnormality of the kidney, Hypospadias, Hyperactivity, Scoliosis, Dias...	OMIM:123450
Multiple Sulfatase Deficiency	Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Hypoplastic vertebral bodies, Splenomegaly	OMIM:272200
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hepatomegaly, Hyperactivity, Highly arched eyebrow, Motor stereotypy, Attention deficit hyperacti...	OMIM:618342
Alpha-Mannosidosis, Adult Form	Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, Oligosacchariduria, Macroglossia	ORPHA:309288
Peroxisome Biogenesis Disorder 2A (Zellweger)	Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary dysgenesis, Hypoplasia ...	OMIM:214110
Palmoplantar Keratoderma And Woolly Hair	Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow	OMIM:616099
Distal Deletion 12Q	Kyphoscoliosis, Obsessive-compulsive trait, Annular pancreas, Ectopic kidney, Biliary atresia, Sm...	ORPHA:96149
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Potocki-Lupski Syndrome	Oral-pharyngeal dysphagia, Hyperactivity, Abnormal renal morphology, Scoliosis, Patent foramen ov...	OMIM:610883
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Developmental And Speech Delay Due To Sox5 Deficiency	Butterfly vertebrae, Aggressive behavior, Scoliosis, Thoracic kyphoscoliosis, Motor stereotypy, A...	ORPHA:313892
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Astigmatism, Hypospadias, Oral-pharyngeal dysphagia, Brittle hair, Scoliosis, Patent foramen oval...	OMIM:619184
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Bartsocas-Papas Syndrome	Popliteal pterygium, Hypoplastic toenails, Renal hypoplasia/aplasia, Sparse or absent eyelashes, ...	ORPHA:1234
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Scoliosis, Hemivertebrae, Ureteral triplication, Absent nipple, Hydronephrosis, Mitral valve prol...	OMIM:104350
Foxg1 Syndrome	Kyphoscoliosis, Scoliosis, Stereotypical hand wringing, Motor stereotypy, Bruxism, Paroxysmal bur...	ORPHA:561854
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m...	OMIM:602111
Teebi-Shaltout Syndrome	Caudal appendage, Highly arched eyebrow, Slow-growing hair, Camptodactyly, Ureteral stenosis, Aor...	OMIM:272950
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal temper tantrums, Astigmatism, Congenital muscular torticollis, Wide anterior fontanel, P...	ORPHA:457279
Lenz-Majewski Hyperostotic Dwarfism	Abnormal metaphysis morphology, Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morph...	ORPHA:2658
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Glutaric aciduria, Hepatomegaly, Elevated circulating hepatic transamin...	ORPHA:26791
Leopard Syndrome 2	Short neck, Hypertrophic cardiomyopathy, Curly hair	OMIM:611554
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Irritability, Increased susceptibility to fractures, Hypocalcemic seizures, Delayed epip...	ORPHA:289157
Griscelli Syndrome	Premature graying of hair, Jaundice, Hepatomegaly, Lymphadenopathy, Silver-gray hair, Abnormal ey...	ORPHA:381
3Mc Syndrome 1	Abnormal anterior chamber morphology, Caudal appendage, Sacral dimple, Spina bifida occulta, High...	OMIM:257920
Gaucher Disease	Decreased HDL cholesterol concentration, Joint stiffness, Leukopenia, Splenomegaly, Pathologic fr...	ORPHA:355
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Nail dystrophy, Ureterocele, Abnormality of the bladder, Abnor...	ORPHA:79404
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Hypospadias, Highly arched eyebrow, Scoliosis, Camptodactyly, Synophry...	OMIM:616737
Branchio-Oculo-Facial Syndrome	Premature graying of hair, Microcornea, Renal agenesis, Hydronephrosis, Fingernail dysplasia, Cat...	ORPHA:1297
Noonan Syndrome 10	Scoliosis, Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Sparse eyebrow, Mitral ste...	OMIM:616564
Fryns Syndrome	Congenital diaphragmatic hernia, Hypoplastic fingernail, Hypospadias, Vesicoureteral reflux, Corn...	ORPHA:2059
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb hypertonia, Patent foramen ovale, Hydronephrosis, Limb joint contracture, Cataract, Atrial s...	OMIM:620327
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone...	ORPHA:3035
Blomstrand Lethal Chondrodysplasia	Rhizomelia, Flared metaphysis, Increased bone mineral density, Metaphyseal cupping, Short ribs, S...	ORPHA:50945
Melnick-Needles Syndrome	Scoliosis, Vesicoureteral reflux, Anisospondyly, Hydronephrosis, Abnormal cardiac septum morphology	ORPHA:2484
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Nail dystrophy, Glomerular sclerosis, Scarring alopecia of scalp, Aplasia of ...	ORPHA:158684
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy, Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fi...	ORPHA:2221
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Nail dysplasia, Ureteral duplication, Hypoplasia of penis, Small...	ORPHA:373
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Mucolipidosis Iii Gamma	Claw hand deformity, Shoulder contracture, Scoliosis, Hyperlordosis, Finger joint contracture, Ky...	OMIM:252605
Vesicoureteral Reflux 3	Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j...	OMIM:613674
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Sacral dimple, Astigmatism, Scoliosis, Unilateral breast hypoplasia, Cataract, Hydronephrosis, Re...	OMIM:300968
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Abnormal vertebral morphology,...	ORPHA:261197
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion	OMIM:608470
Distal Deletion 6P	Abnormal anterior chamber morphology, Scoliosis, Vertebral segmentation defect, Corneal opacity, ...	ORPHA:96125
Intellectual Developmental Disorder, Autosomal Dominant 34	Synophrys, Curly hair, Motor stereotypy, Bruxism, Coarse hair	OMIM:616351
Cystic Echinococcosis	Cholestatic liver disease, Abnormality of the diaphragm, Elevated circulating hepatic transaminas...	ORPHA:400
Ectodermal Dysplasia 7, Hair/Nail Type	Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse...	OMIM:614929
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Restrictive cardiomyopathy, Ascites, Pulmonic stenosis, Hepatic artery hyperplasia,...	OMIM:619433
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Woolly hair	OMIM:611528
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Short palm, Micrognathia, Hyperphosph...	OMIM:241410
Stromme Syndrome	Accessory spleen, Microcornea, Hydronephrosis, Sclerocornea, Bilateral renal hypoplasia, Cataract...	OMIM:243605
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Hepatomegaly, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros...	OMIM:615630
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Bruxism, Abnormal bladder morphology, Vesicoureteral reflux, Scoli...	ORPHA:453499
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Hepatomegaly, Brittle hair	ORPHA:50812
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Hepatomegaly, Reduced muscle carnitine level, Microvesicular hepatic steat...	OMIM:212140
Scheie Syndrome	Spondylolisthesis, Corneal opacity, Aortic valve stenosis, Mitral stenosis, Short neck	OMIM:607016
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Nail dysplasia, Hypospadias, Polycystic kidney dysplasia, Ascites, Renal cyst, Renal hypoplasia, ...	OMIM:614091
Hereditary Xanthinuria	Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar...	ORPHA:3467
Griscelli Syndrome Type 2	Premature graying of hair, Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopeni...	ORPHA:79477
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Abnormal heart morphology, Hydronephrosis, Hydroureter, Fetal megacystis	OMIM:619362
Hajdu-Cheney Syndrome	Hepatomegaly, Hypospadias, Scoliosis, Kyphosis, Synophrys, Aortic valve stenosis, Biconcave verte...	ORPHA:955
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Scoliosis, Elbow flexion contracture, Thoracic kyphosis, Low poster...	OMIM:618440
Lopes-Maciel-Rodan Syndrome	Agitation, Scoliosis, Kyphosis, Dysphagia, Motor stereotypy, Bruxism	OMIM:617435
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Cataract, Hepatic steatosis	OMIM:606069
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho...	OMIM:613091
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Genitopatellar Syndrome	Sparse scalp hair, Hip contracture, Hydronephrosis, Fine hair, Knee flexion contracture, Atrial s...	ORPHA:85201
Aicardi-Goutieres Syndrome 9	Elevated circulating hepatic transaminase concentration, Ascites, Pericarditis, Lower limb hypert...	OMIM:619487
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
1P36 Deletion Syndrome	Hypoplasia of penis, Kyphosis, Abnormal eyebrow morphology, Dysphagia, Hepatic steatosis, Myopath...	ORPHA:1606
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Coarse hair	OMIM:605309
Ritscher-Schinzel Syndrome 4	Scoliosis, Impulsivity, Curly hair, Dysphagia, Motor stereotypy, Micropenis, Aggressive behavior	OMIM:619435
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Tiger tail banding, Sparse eyebrow, Sparse hair, Micropenis, Red...	OMIM:300953
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Motor stereotypy, Aggressive behavior	OMIM:609425
Alazami Syndrome	Scoliosis, Stereotypical hand wringing, Sparse eyebrow, Motor stereotypy, Atrial septal defect, A...	ORPHA:319671
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
2P15P16.1 Microdeletion Syndrome	Supernumerary nipple, Scoliosis, Facial palsy, Kyphosis, Long eyelashes, Camptodactyly of finger,...	ORPHA:261349
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno...	ORPHA:1414
Baker-Gordon Syndrome	Self-injurious behavior, Scoliosis, Motor stereotypy	OMIM:618218
Witkop Syndrome	Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ...	OMIM:189500
Progeroid Syndrome, Petty Type	Brittle hair, Abnormal hair morphology, Wide anterior fontanel, Abnormality of the nail, Generali...	ORPHA:2963
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Emotional lability, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Supernumerary nipple, Highly arched eyebrow, Pelvic kidney, Patent foramen ovale, Vesicoureteral ...	OMIM:618653
Schimmelpenning-Feuerstein-Mims Syndrome	Kyphoscoliosis, Corneal opacity, Hyperphosphaturia, Horseshoe kidney, Alopecia	OMIM:163200
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Scoliosis, Hirsutism, Narrow vertebral interpedicular distance, Motor stereotypy, Attention defic...	OMIM:620073
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nail dystrophy, Hematuria, Pterygium, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal ...	ORPHA:79403
Wagro Syndrome	Agitation, Aniridia, Corneal opacity, Compulsive behaviors, Cataract, Polyphagia, Proteinuria, Ne...	OMIM:612469
Coffin-Siris Syndrome 7	Hyperactivity, Hypoplastic fifth toenail, Patent foramen ovale, Compulsive behaviors, Sparse scal...	OMIM:618027
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea	OMIM:217300
Ectodermal Dysplasia-Blindness Syndrome	Corneal dystrophy, Microcornea, Abnormal fingernail morphology, Sclerocornea, Sparse hair, Catara...	ORPHA:1806
Autism, Susceptibility To, X-Linked 2	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:300495
Histiocytosis-Lymphadenopathy Plus Syndrome	Corneal arcus, Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic stenosis...	OMIM:602782
2Q32Q33 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Fine hair, Sparse hair, Aggressive behavior	ORPHA:251019
Trisomy 1Q	Congenital diaphragmatic hernia, Congenital megaureter, Camptodactyly of finger, Hydronephrosis, ...	ORPHA:261344
Dubowitz Syndrome	Sacral dimple, Anemia, Hypospadias, Spina bifida occulta, Wide anterior fontanel, Scoliosis, Spar...	ORPHA:235
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Nail dysplasia, Curly eyelashes, Facial hirsutism, Low posterior hairline, Curly hair, Thick eyeb...	ORPHA:163654
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, Astigmatism, Scoliosis, Pulmonic stenosis, Motor stereo...	OMIM:618205
Woolly Hair, Autosomal Dominant	Coarse hair, Slow-growing hair, Abnormal eyelash morphology, Woolly hair, Abnormal eyebrow morpho...	OMIM:194300
Aredyld Syndrome	Hepatomegaly, Scoliosis, Abnormality of the ureter, Sparse body hair, Splenomegaly, Aplasia/Hypop...	ORPHA:1133
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Highly arched eyebrow, Stereotypical hand wringing, Skin-picking, Motor stereotypy...	OMIM:600430
Short Syndrome	Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post...	ORPHA:3163
Trichothiodystrophy 1, Photosensitive	Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Small nail, Microcornea, Tiger tail banding, ...	OMIM:601675
4Q21 Microdeletion Syndrome	Scoliosis, Kyphosis, Long eyelashes, Synophrys, Generalized hirsutism, Motor stereotypy, Self-inj...	ORPHA:238750
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Cervical C2/C3 vertebral fu...	ORPHA:1780
Fabry Disease	Abnormal renal tubule morphology, Abnormal endocardium morphology, Glomerulopathy, Abnormal aorti...	ORPHA:324
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Nail dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Ly...	OMIM:615895
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	3-Methylglutaconic aciduria, Abnormality of the kidney, Abnormal aortic valve morphology, Hepatom...	ORPHA:1194
Lateral Meningocele Syndrome	Neurogenic bladder, Scoliosis, Kyphosis, Biconcave vertebral bodies, Decreased muscle mass, Bicus...	OMIM:130720
Rauch-Steindl Syndrome	Sacral dimple, Hepatomegaly, Hyperactivity, Highly arched eyebrow, Exocrine pancreatic insufficie...	OMIM:619695
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Jaundice, Hepatomegaly, Dextrocardia, Recurrent urinary tract infections,...	OMIM:613095
Mosaic Trisomy 8	Scoliosis, Vesicoureteral reflux, Vertebral segmentation defect, Corneal opacity, Camptodactyly o...	ORPHA:96061
Cutis Laxa, Autosomal Recessive, Type Iia	Brittle hair, Wide anterior fontanel, Scoliosis, Abnormality of hair texture, Coarse hair	OMIM:219200
Kawasaki Disease	Irritability, Elevated circulating C-reactive protein concentration, Arthritis, Leukocytosis, Pla...	ORPHA:2331
Trichohepatoneurodevelopmental Syndrome	Decreased liver function, Hepatomegaly, Astigmatism, Cholelithiasis, Thoracic hypertrichosis, Sco...	OMIM:618268
Hypotrichosis With Juvenile Macular Degeneration	Fine hair, Sparse scalp hair, Pili torti, Brittle hair	ORPHA:1573
Trisomy 8P	Annular pancreas, Sacral dimple, Astigmatism, Abnormal left ventricle morphology, Heterochromia i...	ORPHA:264450
Eec Syndrome	Nail dystrophy, Renal hypoplasia/aplasia, Hypospadias, Corneal erosion, Slow-growing hair, Vesico...	ORPHA:1896
Orofaciodigital Syndrome Type 2	Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact...	ORPHA:2751
Intellectual Developmental Disorder, Autosomal Dominant 52	Obsessive-compulsive trait, Astigmatism, Cervical C2/C3 vertebral fusion, Hyperactivity, Scapular...	OMIM:617796
Fucosidosis	Beaking of vertebral bodies, Anterior beaking of thoracic vertebrae, Anterior beaking of lumbar v...	OMIM:230000
Williams Syndrome	Hypoplasia of penis, Abnormal form of the vertebral bodies, Hyperlordosis, Corneal opacity, Kypho...	ORPHA:904
Radio-Tartaglia Syndrome	High anterior hairline, Small nail, Highly arched eyebrow, Scoliosis, Hirsutism, Long eyebrows, I...	OMIM:619312
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormal form of the vertebral bodies, Abnormality of the lymphatic syst...	ORPHA:464329
1Q21.1 Microdeletion Syndrome	Iris coloboma, Scoliosis, Vesicoureteral reflux, Attention deficit hyperactivity disorder, Hydron...	ORPHA:250989
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Abnormal tricuspid valve morphology, Abnormal pulmonary valve morp...	ORPHA:217085
Developmental And Epileptic Encephalopathy 30	Motor stereotypy	OMIM:616341
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated circulating hepatic transaminase concentration, Duplicated collecting system, Cholestasi...	ORPHA:541423
Okamoto Syndrome	Urinary incontinence, Astigmatism, Abnormal left ventricle morphology, Primum atrial septal defec...	ORPHA:2729
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Hepatomegaly, Pancreatitis, Abnormality of skeletal muscle fiber size, Skeletal m...	ORPHA:2348
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Scoliosis, Facial diplegia, Hypertrophic cardiomyopathy, Conjunctival hype...	OMIM:619121
Coffin-Siris Syndrome 6	Kyphoscoliosis, Motor stereotypy, Diaphragmatic eventration, Attention deficit hyperactivity diso...	OMIM:617808
Noonan Syndrome 14	Scapular winging, Hypertrophic cardiomyopathy, Kyphosis, Pulmonic stenosis, Low posterior hairlin...	OMIM:619745
Trichothiodystrophy	Osteopenia, Anemia, Increased mean corpuscular hemoglobin concentration, Increased bone mineral d...	ORPHA:33364
3Mc Syndrome 3	Sacral dimple, Penoscrotal hypospadias, Highly arched eyebrow, Diastasis recti, Corneal opacity, ...	OMIM:248340
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Dilatation of the bladder, Dysplastic tricuspid valve, Bicuspid aortic valve, Dilatation of the r...	OMIM:265380
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Increased vertebral height, Scoliosis, Vesicoureteral reflux, Absent toenail, Hydronephrosis, Pla...	OMIM:620663
Raine Syndrome	Subperiosteal bone formation, Increased bone mineral density, Bowing of the long bones, Micromeli...	OMIM:259775
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the gallbladder, Hypopl...	ORPHA:818
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620065
Chime Syndrome	Acute leukemia, Abnormality of the kidney, Pulmonary valve atresia, Transposition of the great ar...	ORPHA:3474
Tricho-Retino-Dento-Digital Syndrome	Juvenile cataract, Uncombable hair, Sparse hair	ORPHA:1264
Cerebellofaciodental Syndrome	Scoliosis, Sparse eyebrow, Mitral valve prolapse, Cataract, Short neck, Fine hair, Ventricular se...	OMIM:616202
Incontinentia Pigmenti	Kyphoscoliosis, Breast hypoplasia, Nail dystrophy, Nail dysplasia, Ridged nail, Breast aplasia, O...	OMIM:308300
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Hypospadias, Reduced hematocrit, Wide anterior fontanel, Anemia of inadequa...	OMIM:613673
S-Adenosylhomocysteine Hydrolase Deficiency	Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Abnormality of hair ...	ORPHA:88618
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis, Spina bifida occulta	OMIM:618060
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Nail dysplasia, Small nail, Highly arched eyebrow, Patent forame...	OMIM:618454
Prune Belly Syndrome	Aplasia of the abdominal wall musculature, Hydronephrosis, Hydroureter, Congenital posterior uret...	OMIM:100100
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Abnormal tricuspid valve morphology, Abnormal pulmonary valve morp...	ORPHA:217093
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Highly arched eyebrow, Scoliosis, Motor stereotypy, Attention deficit...	OMIM:618825
Shukla-Vernon Syndrome	Impulsivity, Sparse hair, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive ...	OMIM:301029
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Femoral bowi...	OMIM:300009
Galloway-Mowat Syndrome 6	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Motor stereotypy, Paroxysmal...	OMIM:618347
Tetraploidy	Aplasia/Hypoplasia of the thymus, Renal hypoplasia/aplasia, Hydronephrosis	ORPHA:3305
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Cataract...	OMIM:618805
Mucolipidosis Iii Alpha/Beta	Hepatomegaly, Spondylolisthesis, Scoliosis, Cardiomyopathy, Kyphosis, Mucopolysacchariduria, Hype...	OMIM:252600
Rodrigues Blindness	Microcornea, Fine hair, Sclerocornea, Sparse hair	OMIM:268320
Trichothiodystrophy 3, Photosensitive	Trichorrhexis nodosa, Brittle hair, Tiger tail banding, Developmental cataract, Abdominal adhesio...	OMIM:616395
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hirsutism, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis	OMIM:612526
Tbck-Related Intellectual Disability Syndrome	Neurogenic bladder, Scoliosis, Diastasis recti, Corneal opacity, Hirsutism, Synophrys, Pulmonic s...	ORPHA:488632
Pycnodysostosis	Increased bone mineral density, Absent frontal sinuses, Narrow iliac wing, Osteolytic defects of ...	OMIM:265800
Triploidy	Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Iris coloboma, Hypoplasia of penis, Ca...	ORPHA:3376
Desmosterolosis	Osteopetrosis, Talipes, Increased bone mineral density, Micromelia, Metatarsus adductus, Microgna...	ORPHA:35107
Frontometaphyseal Dysplasia	Astigmatism, Fused cervical vertebrae, Spina bifida occulta, Hypoplasia of the musculature, Scoli...	ORPHA:1826
Palmoplantar Keratoderma And Congenital Alopecia 1	Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Alopecia	OMIM:104100
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Kyphosis, Dermatan sulfate excretion in urine, Hep...	OMIM:309900
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Sparse hair, Fine hair, Transposition of the great arteries, Camptodactyly...	OMIM:280000
Multicentric Osteolysis, Nodulosis, And Arthropathy	Kyphoscoliosis, Ankle flexion contracture, Vertebral compression fracture, Hirsutism, Corneal opa...	OMIM:259600
Jacobsen Syndrome	Annular pancreas, Iris coloboma, Abnormal form of the vertebral bodies, Scoliosis, Microcornea, A...	ORPHA:2308
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Astigmatism, Loose anagen hair, Duplicated collecting system, Hyperactivity, Sparse scalp hair, H...	OMIM:607721
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o...	OMIM:227270
Primary Dystonia, Dyt13 Type	Torticollis, Motor stereotypy	ORPHA:98807
Caroli Disease	Anorexia, Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegal...	ORPHA:53035
Jaberi-Elahi Syndrome	Brittle hair, Scoliosis, Kyphosis, Sparse eyelashes, Sparse eyebrow, Sparse hair, Cataract, Fine ...	OMIM:617988
Galactosemia I	Decreased liver function, Cirrhosis, Hepatomegaly, Galactosuria, Elevated circulating alanine ami...	OMIM:230400
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, I...	ORPHA:49041
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Scoliosis,...	OMIM:250250
12Q14 Microdeletion Syndrome	Clinodactyly of the 5th finger, Osteopoikilosis, Tremor, Micrognathia, Abnormality of the spleen	ORPHA:94063
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Nail dystrophy, Leukonychia, Woolly hair, Fragile nails, Dilated cardiomyopathy	OMIM:615821
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Splenomega...	OMIM:617913
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, ...	ORPHA:353281
Oculodentodigital Dysplasia	Abnormal form of the vertebral bodies, Abnormality iris morphology, Brittle hair, Neurogenic blad...	ORPHA:2710
Familial Dysautonomia	Abnormality of the kidney, Glomerulopathy, Corneal erosion, Abnormal peritoneum morphology, Scoli...	ORPHA:1764
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Patent foramen ovale, Hypertrophic cardiomyopathy, Elevated circulating alanine ami...	OMIM:614582
Acrogeria	Scoliosis, Fine hair	ORPHA:2500
Tangier Disease	Nail dystrophy, Anemia, Facial diplegia, Corneal opacity, Chronic noninfectious lymphadenopathy, ...	ORPHA:31150
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad...	OMIM:164900
Incontinentia Pigmenti	Hypoplastic fingernail, Spina bifida occulta, Abnormal hair morphology, Abnormality of the nail, ...	ORPHA:464
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr...	OMIM:262000
Al-Gazali Syndrome	Sclerocornea, Hydronephrosis, Corneal opacity, Wrist flexion contracture	OMIM:609465
Glycosylphosphatidylinositol Biosynthesis Defect 25	Coarse hair, Ankle flexion contracture, Sparse hair	OMIM:619985
Koolen-De Vries Syndrome Due To A Point Mutation	Spondylolisthesis, Hyperlordosis, Cardiomyopathy, Kyphosis, Pulmonic stenosis, Abnormal heart mor...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spondylolisthesis, Hyperlordosis, Cardiomyopathy, Kyphosis, Pulmonic stenosis, Abnormal heart mor...	ORPHA:363958
Dopamine Beta-Hydroxylase Deficiency	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Anemia	ORPHA:230
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Hydroureter, Valvular pulmonary stenosis, Spina bifida occulta, Pelvic kid...	OMIM:300707
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Highly arched eyebrow, Scoliosis, Microcornea, Heterochromia iridis, Abnormality of ...	ORPHA:2995
Behavioral Variant Of Frontotemporal Dementia	Inappropriate behavior, Restrictive behavior, Collectionism, Disinhibition, Restlessness, Motor s...	ORPHA:275864
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Abnormality of the gallbladder, Abnormal form of the vertebral b...	ORPHA:280
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Spina bifida occulta, Highly arched eyebrow, Scoliosis, Camptodactyly, Low posterior hairline, Cu...	OMIM:617360
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Buphthalmos, Hypospadias, Broad eyebrow, Corneal dystrophy, Hirsutism, Corneal opacity, Renal cys...	ORPHA:495875
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Back pain, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Wide anterior fontanel, Corneal opacity, Antecubital pte...	OMIM:619339
Gaucher Disease Type 3	Anemia, Pancytopenia, Increased bone mineral density, Thrombocytopenia, Splenomegaly, Dementia, O...	ORPHA:77261
Sanjad-Sakati Syndrome	Hypocalcemia, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Hyperphosph...	ORPHA:2323
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascite...	ORPHA:36412
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Smith-Magenis Syndrome	Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Scoliosis, Microcornea, Abnormal...	ORPHA:819
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Generalized limb muscle atrophy, Hypospadias, Brittle hair, Compulsive behaviors, Chordee, Flexio...	OMIM:618891
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Facial palsy, Hypertrophic car...	OMIM:619424
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Myoglobinuria, Red-brown u...	ORPHA:228305
Gaucher Disease Type 1	Anorexia, Cirrhosis, Hepatomegaly, Hematuria, Pinguecula, Vertebral compression fracture, Choleli...	ORPHA:77259
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right a...	OMIM:306955
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Bor Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Facial palsy, Ureteropelvic...	ORPHA:107
Infantile Liver Failure Syndrome 3	Beaking of vertebral bodies, Jaundice, Elevated circulating hepatic transaminase concentration, H...	OMIM:618641
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Blue irides, Nail dysplasia, Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Hy...	OMIM:129900
Christianson Syndrome	Inappropriate laughter, Decreased muscle mass, Dysphagia, Motor stereotypy, Thick eyebrow, Arthro...	ORPHA:85278
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal bursts of laughter	OMIM:618718
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Kyphoscoliosis, Hyperactivity, Scoliosis, Synophrys, Motor stereotypy, Lymphopenia, Aggressive be...	ORPHA:391307
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre...	ORPHA:98973
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Leukopenia, Thrombocytopen...	ORPHA:27
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Scoliosis, Hyperlordosis, Bladder diverticulum, Kyphosis	OMIM:617821
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Opitz-Kaveggia Syndrome	Frontal upsweep of hair, Sacral dimple, Hypospadias, Wide anterior fontanel, Camptodactyly, Abnor...	OMIM:305450
Oculodentodigital Dysplasia	Vertebral hyperostosis, Joint contracture of the 5th finger, Slow-growing hair, Neurogenic bladde...	OMIM:164200
Farber Disease	Elevated circulating hepatic transaminase concentration, Anemia, Lymphadenopathy, Intrahepatic ch...	ORPHA:333
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Scoliosis, Recurrent hand flapping, Pulmonic stenosis, Motor stereotypy, Attention...	OMIM:617600
Fryns Syndrome	Ureteral duplication, Hypospadias, Facial hirsutism, Small nail, Aplasia of the left hemidiaphrag...	OMIM:229850
Harderoporphyria	Increased urine harderoporphyrin level, Hepatomegaly, Red urine, Increased urinary porphobilinoge...	OMIM:618892
Peroxisome Biogenesis Disorder 5A (Zellweger)	Small nail, Cholestasis, Renal cortical microcysts, Splenomegaly, Jaundice, Hypospadias, Polycyst...	OMIM:614866
Oculocerebrorenal Syndrome Of Lowe	Corneal opacity, Kyphosis, Attention deficit hyperactivity disorder, Nephrocalcinosis, Multiple r...	ORPHA:534
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ...	OMIM:119800
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly, Hypopigmentation of hair	OMIM:618541
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Vertebral compression fracture, Cholelithiasis, Loss of eyelas...	OMIM:263700
Desmosterolosis	Elevated circulating desmosterol concentration, Rhizomelia, Abnormal circulating cholesterol conc...	OMIM:602398
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U...	ORPHA:449395
Cousin Syndrome	Prominent protruding coccyx, Facial hirsutism, Microcornea, Wrist flexion contracture, Camptodact...	OMIM:260660
Thrombocytopenia-Absent Radius Syndrome	Renal malrotation, Atrial septal defect, Ureteral duplication, Atrioventricular canal defect, Fus...	OMIM:274000
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal...	ORPHA:171673
Oculomaxillofacial Dysostosis	Sparse or absent eyelashes, Abnormal eyelash morphology, Corneal opacity, Camptodactyly of finger...	ORPHA:1794
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Scoliosis, Thoracic kyphosis, Long eyelashes, Synophrys, Short neck, Fine hair, Aggressive behavior	OMIM:620250
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Synophrys, Keratitis, Thick eyebrow, Conjunctivitis	OMIM:602562
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Hydronephrosis, Arthrogryposis multiplex congenita, Vesicoureteral reflux	OMIM:618265
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Small nail, Anemia of inadequate production, Reticulocytosis, Poi...	OMIM:615631
Ectodermal Dysplasia 13, Hair/Tooth Type	Sparse eyelashes, Low anterior hairline, Thin eyebrow, Brittle hair	OMIM:617392
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Developmental glaucoma, Corneal opacity, Unilateral renal agenesis, Aniridia	ORPHA:1064
Odontotrichoungual-Digital-Palmar Syndrome	Nail dysplasia, Nail dystrophy, Abnormality of hair texture	OMIM:601957
Mckusick-Kaufman Syndrome	Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Hydronephrosis, Tetral...	ORPHA:2473
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Nail dysplasia, Coarse hair, Scoliosis, Elbow flexion contracture, Cataract, Thenar muscle atroph...	OMIM:612394
Pili Torti, Early-Onset	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr...	OMIM:261900
White-Sutton Syndrome	Congenital diaphragmatic hernia, Astigmatism, Aggressive behavior, Duplicated collecting system, ...	OMIM:616364
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Perimembranous ventricular septal defect, Hypospadias, Pelvic kidney, Trun...	ORPHA:508498
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Developmental cataract, Os odontoideum, Unilateral renal agenesis	OMIM:616603
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Kyphoscoliosis, Scoliosis, Synophrys, Low anterior hairline, Sparse hair, Short neck, Fine hair	ORPHA:391408
Rapp-Hodgkin Syndrome	Nail dystrophy, Hypospadias, Decreased number of sweat glands, Pili canaliculi, Slow-growing hair...	OMIM:129400
Congenital Disorder Of Deglycosylation 1	3-Methylglutaconic aciduria, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:615273
Microphthalmia With Limb Anomalies	Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ...	OMIM:206920
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Fine hair, Sparse scalp hair	ORPHA:2324
Immunodeficiency 10	Autoimmune hemolytic anemia, Nail dysplasia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tra...	OMIM:612783
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Renal interstitial amyloid deposits, Hepatomegaly, Anemia, Decreased gl...	ORPHA:85450
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Renal hypoplasia, Proteinuria, Cataract, Stag...	OMIM:614376
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Verteb...	ORPHA:2745
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Familial Thrombocytosis	Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia	ORPHA:71493
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Thick hair, Intrahepatic biliary atresia, Alopeci...	OMIM:607626
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Attention deficit hyperactivity disorder, Scoliosis, Nail dystrophy, Motor stereotypy	OMIM:620502
Feingold Syndrome Type 1	Abnormality of the kidney, Tricuspid atresia, Vesicoureteral reflux, Tricuspid stenosis, Multiple...	ORPHA:391641
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Corneal opacity, Megalocornea	ORPHA:2741
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Coach Syndrome 1	Cirrhosis, Nephronophthisis, Elevated circulating hepatic transaminase concentration, Unilateral ...	OMIM:216360
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Hepatomegaly, Renal tubular acidosis, Cardiomyopathy, Renal cyst, Renal...	OMIM:614922
Walker-Warburg Syndrome	Muscular dystrophy, Hypoplasia of penis, Microcornea, Aplasia/Hypoplasia involving the skeletal m...	ORPHA:899
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:367
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Congenital ...	ORPHA:280633
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Irritability, Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum cre...	OMIM:300539
Trichothiodystrophy 8, Nonphotosensitive	Woolly hair, Trichorrhexis nodosa, Sparse eyebrow, Sparse hair	OMIM:619691
Pseudoleprechaunism Syndrome, Patterson Type	Kyphoscoliosis, Hirsutism, Bladder diverticulum, Abnormal odontoid process morphology	ORPHA:2976
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Brittle hair	OMIM:618546
Xq28 (MECP2) duplication	Functional abnormality of the bladder, Dysphagia, Motor stereotypy	DECIPHER:45
Paroxysmal Nocturnal Hemoglobinuria	Reduced haptoglobin level, Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or act...	ORPHA:447
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Premature graying of hair, Nail dystrophy, Nail dysplasia, Anemia, Macrocytic an...	OMIM:613990
Mucolipidosis Type Ii	Abnormal aortic valve morphology, Patent foramen ovale, Cardiomyopathy, Diastasis recti, Kyphosis...	ORPHA:576
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Hall-Riggs Syndrome	Thick hair, Slow-growing hair, Scoliosis, Platyspondyly, Coarse hair	ORPHA:2107
Palmoplantar Keratoderma, Epidermolytic, 2	Curly hair	OMIM:620411
Kyphoscoliotic Ehlers-Danlos Syndrome	Kyphoscoliosis, Congenital kyphoscoliosis, Dextrocardia, Scoliosis, Microcornea, Synophrys, Atlan...	ORPHA:536545
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedul...	OMIM:259730
Autosomal Recessive Robinow Syndrome	Sacral dimple, Abnormal tricuspid valve morphology, Hypoplasia of penis, Scoliosis, Vertebral seg...	ORPHA:1507
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Corneal erosion, Hyperconvex fingernails, Corneal opacity, Kyphosis, Sparse hair, Thin fingernail...	ORPHA:2273
Spondyloepiphyseal Dysplasia, Maroteaux Type	Kyphoscoliosis, Mucopolysacchariduria, Atlantoaxial instability, Platyspondyly, Short neck, Opaci...	OMIM:184095
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Supernumerary nipple, Highly arched eyebrow, Compulsive behavior...	ORPHA:1001
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Motor stereotypy, Disinhibition, Skeletal muscle atrophy, Dysphagia	OMIM:612069
Gabriele-De Vries Syndrome	Facial hypotonia, Patent foramen ovale, Sparse eyebrow, Ureteropelvic junction obstruction, Hydro...	OMIM:617557
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Jaundice, Intrahepatic cholestasis, Duplicated collecting system, Eleva...	OMIM:617093
Pick Disease Of Brain	Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy	OMIM:172700
Insensitivity To Pain, Congenital, With Anhidrosis	Recurrent corneal erosions, Nail dysplasia, Nail dystrophy, Corneal ulceration, Hyperactivity, Co...	OMIM:256800
Chromosome 6Pter-P24 Deletion Syndrome	Frontal upsweep of hair, Ocular anterior segment dysgenesis, Peters anomaly, Patent foramen ovale...	OMIM:612582
Robinow Syndrome	Kyphoscoliosis, Pulmonary valve atresia, Fused thoracic vertebrae, Tricuspid atresia, High anteri...	ORPHA:97360
Glycogen Storage Disease Xii	Muscle fiber splitting, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose...	OMIM:611881
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Polyphagia, Restlessness, Sparse hair, Short neck, Fine hair, Ventricular septal defect, Micropen...	ORPHA:251028
Developmental And Epileptic Encephalopathy 64	Limb hypertonia, Highly arched eyebrow, Long eyelashes, Sparse eyebrow, Low anterior hairline, Th...	OMIM:618004
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anemia, Hypopigmentation of hair, Corneal opacity, Ureteral stenosis, Iris hypopigmentation, Cata...	ORPHA:2719
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Highly arched eyebrow, Self-injurious behavior, Corneal opacity	OMIM:620469
Xanthinuria, Type I	Xanthinuria, Hydronephrosis, Xanthine nephrolithiasis, Pyelonephritis, Myopathy	OMIM:278300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Kyphosis, T lymphocytopenia, Mitral valve prolapse, Lymphopenia, Hypereosinophilia, Cervical spin...	ORPHA:508533
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Mediastinal lymphadenopathy, Viral hepatitis, Splenomega...	ORPHA:91138
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Fine hair, High anterior hairline, Long eyelashes	ORPHA:231137
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Developmental glaucoma, Splenic cyst, Polycystic kidney dysplasia, Wide anterior fo...	OMIM:610199
Chromosome 2P16.1-P15 Deletion Syndrome	Kyphoscoliosis, Camptodactyly, Hydronephrosis, Attention deficit hyperactivity disorder, Micropen...	OMIM:612513
Rubinstein-Taybi Syndrome 1	Hyperactivity, Highly arched eyebrow, Impulsivity, Low posterior hairline, Mitral valve prolapse,...	OMIM:180849
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Trichoepithelioma, Sparse hair, Pili torti, Coarse hair	OMIM:301845
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Liver Disease, Severe Congenital	Left atrial enlargement, Nail dystrophy, Elevated circulating hepatic transaminase concentration,...	OMIM:619991
Adams-Oliver Syndrome 5	Patent foramen ovale, Dystrophic toenail, Right atrial enlargement, Pulmonic stenosis, Portal vei...	OMIM:616028
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Spondylodysplastic Ehlers-Danlos Syndrome	Beaking of vertebral bodies, Kyphoscoliosis, Posterior subcapsular cataract, Abnormal vertebral m...	ORPHA:536471
Houge-Janssens Syndrome 3	Muscular ventricular septal defect, Megalocornea, Motor stereotypy, Attention deficit hyperactivi...	OMIM:618354
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hyperactivity, Diastasis recti, Hypospadias, Curly hair	ORPHA:457485
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Scoliosis, Compulsive behaviors, Kyphosis, Synophrys, Motor stereotypy, Att...	ORPHA:476126
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Broad eyebrow, Highly arched eyebrow, Hirsutism, Woolly hair, Kyphosis, Low anterior hairline, Ag...	OMIM:619244
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Small nail, Abnormal cardiac septum morphology, Alopecia, Scoliosis, V...	OMIM:308050
Hyperphosphatasia-Intellectual Disability Syndrome	Small nail, Highly arched eyebrow, Scoliosis, Hydronephrosis, Shallow anterior chamber, Short nec...	ORPHA:247262
Wilson Disease	Sunflower cataract, Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Dysphagia, Hep...	OMIM:277900
Congenital Hereditary Endothelial Dystrophy Type Ii	Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ...	ORPHA:293603
Autism, Susceptibility To, 3	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy, Ketonuria	OMIM:608049
Sickle Cell Disease	Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Corneal opacity, Camptodactyly of finger, Iris hypopigmentation, Sclerocorne...	ORPHA:284160
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Astigmatism, Cardiomyopath...	OMIM:617713
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,...	OMIM:616278
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Erdheim-Chester Disease	Polydipsia, Abnormal aortic valve morphology, Anemia, Dysuria, Retroperitoneal fibrosis, Abnormal...	ORPHA:35687
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Jaundice, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polyc...	OMIM:231680
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis	OMIM:619218
Anterior Segment Dysgenesis 5	Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac...	OMIM:604229
Legionnaires Disease	Myocarditis, Anorexia, Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Hepatitis, Pericarditi...	ORPHA:549
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Sacral dimple, Toenail dysplasia, Tongue thrusting, Bruxism, Polycysti...	OMIM:606232
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Multicystic kid...	ORPHA:1454
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Hypospadias, Highly arched eyebrow, Scoliosis, Abnormality of the lymp...	ORPHA:487796
Osteogenesis Imperfecta, Type Viii	Osteopenia, Inguinal hernia, Slender long bone, Femoral retroversion, Femoral bowing, Tibial bowi...	OMIM:610915
Cockayne Syndrome	Urinary incontinence, Elevated circulating hepatic transaminase concentration, Kyphosis, Splenome...	ORPHA:191
Baller-Gerold Syndrome	Scoliosis, Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localizatio...	ORPHA:1225
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor...	OMIM:263520
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Attention deficit hyperactivity disorder, Scoliosis, Motor stereotypy	OMIM:618906
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Hypertrophic cardiomyopathy, Nephrotic syndrome, Aortic valve ...	ORPHA:330001
Kleefstra Syndrome 1	Aggressive behavior, Hypospadias, Abnormal renal morphology, Compulsive behaviors, Synophrys, Mot...	OMIM:610253
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Tay-Sachs Disease	Limited elbow extension, Memory impairment, Depression, Increased serum beta-hexosaminidase, Trem...	ORPHA:845
Doors Syndrome	Equinovarus deformity, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sirenomelia, 11 pairs ...	ORPHA:79500
Brittle Cornea Syndrome 2	Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ...	OMIM:614170
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Abnormal temper tantrums, Hyperactivity, Scoliosis, Recurrent hand flapping, Mitral valve prolaps...	ORPHA:449291
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Hypospadias, Cervical C2/C3 vertebral fusion, Facial hirsutism, Hi...	ORPHA:444077
Williams-Beuren Syndrome	Kyphoscoliosis, Premature graying of hair, Small nail, Abnormal renal morphology, Pulmonic stenos...	OMIM:194050
Noonan Syndrome	Coarse hair, Juvenile myelomonocytic leukemia, Hepatomegaly, Abnormal hair quantity, Scoliosis, A...	ORPHA:648
Glycine Encephalopathy With Normal Serum Glycine	Genu recurvatum, Elbow flexion contracture, Exaggerated startle response, Hand clenching, Hip con...	OMIM:617301
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Thick eyebrow, Coarse hair, Synophrys	ORPHA:1021
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis, Hy...	ORPHA:156
Carey-Fineman-Ziter Syndrome	Aplasia of the pectoralis major muscle, Glandular hypospadias, Scoliosis, Facial palsy, Hydroneph...	ORPHA:1358
Alagille Syndrome 1	Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice...	OMIM:118450
Chanarin-Dorfman Syndrome	Hepatomegaly, Subcapsular cataract, Hepatic steatosis, Myopathy, Alopecia	OMIM:275630
Lysinuric Protein Intolerance	Hepatomegaly, Oroticaciduria, Pancreatitis, Hemophagocytosis, Anemia, Leukopenia, Skeletal muscle...	OMIM:222700
Robinow Syndrome, Autosomal Recessive 1	Nail dysplasia, Hypoplastic sacrum, Small nail, Nephrocalcinosis, Abnormal heart morphology, Sacr...	OMIM:268310
Melnick-Needles Syndrome	Kyphoscoliosis, Tricuspid valve prolapse, Ureteral stenosis, Frontal hirsutism, Hydronephrosis, M...	OMIM:309350
Oculocerebrocutaneous Syndrome	Congenital diaphragmatic hernia, Iris coloboma, Corneal opacity, Abnormal fingernail morphology, ...	ORPHA:1647
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Mcleod Syndrome	Hepatomegaly, Acanthocytosis, Cardiomyopathy, Compulsive behaviors, Elevated circulating alanine ...	OMIM:300842
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Hepatomegaly, Hypertrophic cardiomyopathy, Ketonuria	OMIM:619053
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Synophrys, Long eyelashes, Thick eyebrow, Low anterior hairline, Motor stereotypy	ORPHA:411986
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Kyphoscoliosis, Astigmatism, Medial flaring of the eyebrow, Small nail, Recurrent urinary tract i...	OMIM:620494
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Abnormality of skeletal muscle fiber size, Skeletal muscle...	ORPHA:79083
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity, Hematuria, Proteinuria, Nephropathy	ORPHA:1765
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Wide anterior fontanel, Self-injurious behavior, Opacification of the corneal stro...	OMIM:601853
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Hydronephrosis, Thrombocytopenia	OMIM:300048
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Nail dystrophy, Woolly hair, Sparse eyelashes, Sparse eyebrow, Cardiomyocyte hypertrophy, Dilated...	OMIM:605676
Cerebrofaciothoracic Dysplasia	Scoliosis, Hemivertebrae, Vertebral segmentation defect, Low posterior hairline, Synophrys, Thick...	ORPHA:1394
Sabinas Brittle Hair Syndrome	Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair	OMIM:211390
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect, Frontal upsweep of hair, Hydronephrosis, Micropenis	OMIM:617798
Mesomelia-Synostoses Syndrome	Abnormal eyebrow morphology, Hydronephrosis	ORPHA:2496
Gapo Syndrome	Nail dysplasia, Breast hypoplasia, Hepatomegaly, Tubulointerstitial fibrosis, Wide anterior fonta...	OMIM:230740
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal temper tantrums, Anemia, Cholelithiasis, Azoospermia, Pancytopenia, Bacterial endocardit...	ORPHA:2072
Ogden Syndrome	Torticollis, Scoliosis, Aplasia/Hypoplasia of the eyebrow, Fine hair, Ventricular septal defect	ORPHA:276432
Occipital Horn Syndrome	Coarse hair, Kyphosis, Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Platyspondyly,...	OMIM:304150
Floating-Harbor Syndrome	Kyphoscoliosis, Mesocardia, Impulsivity, Nephrocalcinosis, Congenital posterior urethral valve, S...	ORPHA:2044
Argininosuccinic Aciduria	Trichorrhexis nodosa, Hepatomegaly, Oroticaciduria, Brittle hair, Elevated circulating aspartate ...	OMIM:207900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Woolly hair	OMIM:607450
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Periportal fibrosis, Hypertr...	OMIM:201475
48,Xxyy Syndrome	Azoospermia, Hypoplasia of penis, Scoliosis, Motor stereotypy, Attention deficit hyperactivity di...	ORPHA:10
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Microcornea, Abnormal heart morphology, Opacification of the corneal stroma, Anterio...	OMIM:601499
Severe Intellectual Disability And Progressive Spastic Paraplegia	Motor stereotypy, Facial hypotonia	ORPHA:280763
Scalp-Ear-Nipple Syndrome	Nail dysplasia, Unilateral renal agenesis, Breast aplasia, Cardiac myxoma, Patchy alopecia, Aniso...	OMIM:181270
Smith-Kingsmore Syndrome	Wide anterior fontanel, Thrombocytopenia, Diastasis recti, Curly hair	OMIM:616638
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi...	OMIM:616860
Hypotrichosis Simplex Of The Scalp	Slow-growing scalp hair, Alopecia of scalp, Fine hair, Sparse scalp hair	ORPHA:90368
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Kyphosis, Lumbosacral hirsutism, Aggressive beha...	OMIM:135900
Schinzel-Giedion Midface Retraction Syndrome	Hydroureter, Hypospadias, Sacrococcygeal teratoma, Hypoplastic nipples, Ureteral stenosis, Spleno...	OMIM:269150
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Alpha-Mannosidosis, Infantile Form	Astigmatism, Facial hypotonia, Pancytopenia, Recurrent urinary tract infections, Highly arched ey...	ORPHA:309282
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Myositis, Pericarditis, ...	ORPHA:809
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Congenital diaphragmatic hernia, Ureteral duplication, Vesicoureteral reflux, Ureteral hypoplasia...	OMIM:614080
Pontocerebellar Hypoplasia, Type 11	Skeletal muscle atrophy, Dysphagia, Motor stereotypy, Attention deficit hyperactivity disorder, S...	OMIM:617695
Al Amyloidosis	Renal interstitial amyloid deposits, Abnormality of the kidney, Hepatomegaly, Anemia, Abnormal ca...	ORPHA:85443
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Midline central nervous system lipomas, Mesomelic leg shortening, Tubulonodu...	OMIM:603671
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Scoliosis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyp...	OMIM:313400
Mosaic Trisomy 1	Congenital diaphragmatic hernia, Small nail, Renal cortical cysts, Hypoplastic thumbnail, Elbow f...	ORPHA:1692
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Pes cavus, Exaggerated startle response, Absent Achilles reflex, Flexion contracture, Ankle clonus	OMIM:609541
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neutropen...	ORPHA:398124
Cutis Laxa, Autosomal Recessive, Type Ic	Multiple bladder diverticula, Accessory spleen, Morgagni diaphragmatic hernia, Patent foramen ova...	OMIM:613177
Larsen Syndrome	Beaking of vertebral bodies, Spondylolysis, Spina bifida occulta, Scoliosis, Corneal opacity, Sho...	OMIM:150250
Limb Body Wall Complex	Congenital diaphragmatic hernia, Abnormality of the kidney, Ectopia cordis, Spina bifida occulta,...	ORPHA:2369
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul...	OMIM:615595
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Hydronephrosis, Ventricular septal defect	ORPHA:457193
Schinzel-Giedion Syndrome	Kyphoscoliosis, Annular pancreas, Hypospadias, Wide anterior fontanel, Scoliosis, Generalized hyp...	ORPHA:798
Zimmermann-Laband Syndrome 1	Hepatomegaly, Spina bifida occulta, Long penis, Highly arched eyebrow, Thick hair, Scoliosis, Hir...	OMIM:135500
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Hyperactivity, Splenomegaly, Hepatic steatosis, Aggressive behavior, S...	OMIM:270400
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Patchy alopecia, Splenomegaly, Hypere...	OMIM:615387
Igg4-Related Aortitis	Low back pain, Hypereosinophilia, Hydronephrosis	ORPHA:449400
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Vertebral compression fracture, Scoliosis, Central vertebral hypoplasia, Vertebral ...	OMIM:602557
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Scoliosis, Hemivertebrae, Hydronephrosis, Block vertebrae, Urethral atresia, Short neck, Supernum...	OMIM:271520
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity	ORPHA:2788
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, EMG: myopa...	ORPHA:98907
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Perimembranous ventricular septal defect, Hepatomegaly, Fused cervical vertebrae, Cholelithiasis,...	ORPHA:83617
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Compulsive behaviors, Stereotypical hand wringing, Motor stereotypy	OMIM:618917
Knobloch Syndrome 1	Iris transillumination defect, Alopecia of scalp, Spina bifida occulta, Duplicated collecting sys...	OMIM:267750
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Highly arched eyebrow, Impulsivity, Pulmonic stenosis, Aortic valve stenosis, Abno...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Highly arched eyebrow, Impulsivity, Pulmonic stenosis, Aortic valve stenosis, Abno...	ORPHA:353277
Noonan Syndrome 2	Atrioventricular canal defect, Anterior polar cataract, Patent foramen ovale, Cardiomyopathy, Hyp...	OMIM:605275
Cogan Syndrome	Thrombocytosis, Anemia, Leukocytosis	ORPHA:1467
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Intervertebral disk degeneration, Cholelithiasis, Scoliosis, T...	OMIM:188400
Atypical Werner Syndrome	Rocker bottom foot, Hypertriglyceridemia, Lipoatrophy, Reduced bone mineral density, Osteolytic d...	ORPHA:79474
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Fused cervical vertebrae, Hyperactivity, Scoliosis, Thoracic kyphosis, ...	ORPHA:530983
Uncombable Hair Syndrome 1	Uncombable hair, Pili canaliculi, Dry hair	OMIM:191480
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux	OMIM:613735
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Low posterior hairline, Pulmonic stenosis, Inappropriate laughter, Secundu...	OMIM:615802
Histiocytoid Cardiomyopathy	Hepatomegaly, Corneal opacity, Congenital aphakia, Renal cyst, Megalocornea, Cardiomegaly, Ventri...	ORPHA:137675
Tarp Syndrome	Scoliosis, Hydronephrosis, Tetralogy of Fallot, Thick eyebrow, Abnormal hair pattern, Atrial sept...	ORPHA:2886
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Galloway-Mowat Syndrome 9	Coarse hair, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomeru...	OMIM:619603
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Hypocalcemia...	ORPHA:667
Trichorhinophalangeal Syndrome, Type I	Leukonychia, Thin nail, Slow-growing hair, Scoliosis, Hyperlordosis, Scapular winging, Sparse sca...	OMIM:190350
Tarp Syndrome	Hydronephrosis, Tetralogy of Fallot, Atrial septal defect, Horseshoe kidney, Hepatic failure	OMIM:311900
8P11.2 Deletion Syndrome	Sacral dimple, Azoospermia, Hypoplasia of penis, Microcornea, Spherocytosis, Splenomegaly, Mitral...	ORPHA:251066
Oculoectodermal Syndrome	Astigmatism, Hyperactivity, Microcornea, Limbal dermoid, Hypertrophic cardiomyopathy, Bladder exs...	OMIM:600268
Hypotrichosis 13	Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology	OMIM:615896
Gm2 Gangliosidosis, Ab Variant	Dystonia, Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment	ORPHA:309246
Lathosterolosis	Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Hypoplasia of penis, Microcornea, Ab...	ORPHA:46059
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Tetrasomy 9P	Biliary atresia, Hyperactivity, Abnormal mitral valve morphology, Pericarditis, Multiple renal cy...	ORPHA:3310
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-...	ORPHA:157
Cranioectodermal Dysplasia 3	Cirrhosis, Nephronophthisis, Broad nail, Short nail, Sparse hair, Stage 5 chronic kidney disease,...	OMIM:614099
Cranioectodermal Dysplasia 1	Hepatomegaly, Thin nail, Malformation of the hepatic ductal plate, Slow-growing hair, Stage 1 chr...	OMIM:218330
Adrenomyeloneuropathy	Distal lower limb muscle weakness, Urinary incontinence, Frontal balding, Urinary urgency, Leg mu...	ORPHA:139399
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Wide anterior fontanel, Opacification of the corneal stroma	OMIM:601356
Joubert Syndrome 6	Nephronophthisis, Hepatic fibrosis, Bile duct proliferation, Motor stereotypy, Stage 5 chronic ki...	OMIM:610688
Lipodystrophy, Congenital Generalized, Type 4	Muscular dystrophy, Spinal rigidity, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:613327
Dyskeratosis Congenita	Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Aplastic/hypoplastic toenail...	ORPHA:1775
Norrie Disease	Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar...	OMIM:310600
Trisomy 18	Congenital diaphragmatic hernia, Microcornea, Abnormality of the upper urinary tract, Camptodacty...	ORPHA:3380
Meckel Syndrome	Situs inversus totalis, Ureteral duplication, Accessory spleen, Microcornea, Pancreatic cysts, As...	ORPHA:564
Congenital Disorder Of Glycosylation, Type Iia	Hirsutism, Thoracolumbar kyphoscoliosis, Stereotypical hand wringing, Long eyelashes, Thick eyebr...	OMIM:212066
Craniofrontonasal Syndrome	Congenital diaphragmatic hernia, Breast hypoplasia, Axillary pterygium, Hypospadias, Ridged nail,...	OMIM:304110
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:602347
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma, Sacral dimple	ORPHA:1643
Giant Axonal Neuropathy 1, Autosomal Recessive	Scoliosis, Distal amyotrophy, Facial palsy, Curly hair	OMIM:256850
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Scoliosis, Corneal opacity, Ovoid vertebral bodies, Ectopia pupillae, Severe platyspondyly, Platy...	OMIM:608940
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Congenital diaphragmatic hernia, Tricuspid valve prolapse, Sacral dimple, Hypospadias...	ORPHA:2556
Fuchs Endothelial Corneal Dystrophy	Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of...	ORPHA:98974
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Sparse eyebrow, Fetal megacystis, Multicystic kidney dysplasia	ORPHA:73246
Aromatic L-Amino Acid Decarboxylase Deficiency	Irritability, Torticollis, Oculogyric crisis, Emotional lability, Athetosis, Blepharospasm, Limb ...	OMIM:608643
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Highly arched eyebrow, Low posterior hairline, Aortic valve ste...	OMIM:613563
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperlordosis, Cholestasis, Impulsivity, Dysphagia, Bruxism, Hepatic steatosis, Transposition of ...	OMIM:619503
Pallister-Hall Syndrome	Nail dysplasia, Hydroureter, Ectopic kidney, Hemivertebrae, Renal cyst, Distal urethral duplicati...	OMIM:146510
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Enlarged kidney, Cardiomyopathy, Pulmonic stenosis, Splenomegaly...	OMIM:312870
Intellectual Developmental Disorder, X-Linked 98	Urinary incontinence, Lower limb amyotrophy, Hyperactivity, Recurrent hand flapping, Stereotypica...	OMIM:300912
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel...	OMIM:108720
Developmental And Epileptic Encephalopathy 6B	Scoliosis, Motor stereotypy	OMIM:619317
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Generalized hirsutism, Sclerocornea, Low anterior hairline, Coarse hair	ORPHA:2095
Vater/Vacterl Association	Transposition of the great arteries, Abnormal vertebral morphology, Ectopic kidney, Hypospadias, ...	OMIM:192350
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent...	ORPHA:64743
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Proximal tubulopathy...	ORPHA:231222
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Lacticaciduria, Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiom...	OMIM:619167
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	High anterior hairline, Highly arched eyebrow, Slow-growing hair, Patent foramen ovale, Scoliosis...	OMIM:617506
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Multiple bladder diverticula, Proteinuria	ORPHA:2728
Atopic Keratoconjunctivitis	Corneal neovascularization, Loss of eyelashes, Corneal opacity, Corneal scarring, Chemosis, Conju...	ORPHA:163934
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Highly arched eyebrow, Scoliosis, Kyphosis, Long eyelashes, Decreased hemoglobin co...	OMIM:619005
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Broad eyebrow, Limb hypertonia, Highly arched eyebrow, Scoliosis, Sacral hypertrichosis, Thromboc...	ORPHA:457351
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bruxism, Type 1 muscle fiber atrophy, Scoliosis, Vesicoureteral reflux, Ventricular septal defect...	ORPHA:453504
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase concentration, Porta...	ORPHA:264580
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bruxism, Type 1 muscle fiber atrophy, Scoliosis, Vesicoureteral reflux, Ventricular septal defect...	ORPHA:352665
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Nail dystrophy, Brittle hair, Atrial septal defect, Macroglossia, Dry hair	ORPHA:93947
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Abnormal hair morphology, Microcornea, Kyphosis, Hypoplasia of...	OMIM:133540
Q Fever	Myocarditis, Anorexia, Hepatomegaly, Hematuria, Elevated circulating hepatic transaminase concent...	ORPHA:781
Peeling Skin Syndrome 1	Eosinophilia, Nail dystrophy, Onycholysis, Brittle hair	OMIM:270300
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Kyphoscoliosis, Microcornea, Atlantoaxial instability, Bladder diverticulum, Skeletal muscle atro...	OMIM:614557
15q26 overgrowth syndrome	Abnormality of the kidney, High anterior hairline, Polycystic kidney dysplasia, Scoliosis, Vesico...	DECIPHER:81
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Carnitine Palmitoyltransferase I Deficiency	Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ren...	OMIM:255120
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal heart morphology, Dysphagia, Motor stereotypy	ORPHA:79264
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Hijazi-Reis Syndrome	Astigmatism, Motor stereotypy, Iris coloboma	OMIM:301094
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic...	ORPHA:228308
Fibrochondrogenesis 1	Narrow greater sciatic notch, Joint contracture of the hand, Fibular hypoplasia, Rhizomelia, Clin...	OMIM:228520
Gaucher Disease, Type I	Hepatomegaly, Anemia, Vertebral compression fracture, Pancytopenia, Aortic valve stenosis, Thromb...	OMIM:230800
Trichorhinophalangeal Syndrome, Type Iii	Sparse lateral eyebrow, Scoliosis, Fine hair, Sparse hair	OMIM:190351
White-Sutton Syndrome	Congenital diaphragmatic hernia, Astigmatism, Aggressive behavior, Duplicated collecting system, ...	ORPHA:468678
Shwachman-Diamond Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute myeloid leukemia, An...	OMIM:260400
Bardet-Biedl Syndrome	Astigmatism, Elevated circulating hepatic transaminase concentration, Medial flaring of the eyebr...	ORPHA:110
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Congenital diaphragmatic hernia, Finger syndact...	ORPHA:958
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P...	OMIM:124000
Acrofacial Dysostosis, Catania Type	Coarse hair, Abnormal hair pattern, Hypospadias, Spina bifida occulta	ORPHA:1786
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Dysphagia, Cardiomegaly, Bicuspid aortic valve, Fine ha...	OMIM:300855
Trichothiodystrophy 2, Photosensitive	Tiger tail banding, Coarse hair	OMIM:616390
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Lymphadenopathy,...	ORPHA:100078
Leukodystrophy, Hypomyelinating, 13	Irritability, Joint contracture, Exaggerated startle response	OMIM:616881
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Hepatomegaly, Anemia, Hypertrophic cardiomyopathy, Skeletal muscle stea...	ORPHA:436271
Au-Kline Syndrome	Sacral dimple, Vesicoureteral reflux, Vertebral segmentation defect, Sparse lateral eyebrow, Thor...	OMIM:616580
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Hypocalcemic seizures, Anemia, Abnormal trabecular bone morphology...	OMIM:612301
Pitt-Hopkins Syndrome	Hyperconvex nail, Sacral dimple, Astigmatism, Supernumerary nipple, Scoliosis, Sparse medial eyeb...	OMIM:610954
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis, Limb hypertonia	ORPHA:488613
Mosaic Variegated Aneuploidy Syndrome	Muscular dystrophy, Rhabdomyosarcoma, Corneal opacity, Ascites, Cataract, Acute lymphoblastic leu...	ORPHA:1052
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Kyphoscoliosis, Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Increased r...	OMIM:225400
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Autosomal Recessive Spastic Paraplegia Type 20	Distal amyotrophy, Dysuria, Upper limb muscle weakness, Hydronephrosis, Skeletal muscle atrophy, ...	ORPHA:101000
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome...	ORPHA:79303
3P25.3 Microdeletion Syndrome	Sacral dimple, Scoliosis, Pulmonic stenosis, Skeletal muscle atrophy, Motor stereotypy, Knee flex...	ORPHA:435638
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Conjunctival icterus, Increased mean corpuscular hemoglob...	OMIM:194380
Campomelic Dysplasia	Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tracheomalacia, Tracheo...	ORPHA:140
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Omodysplasia 2	Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r...	OMIM:164745
Onychotrichodysplasia And Neutropenia	Trichorrhexis nodosa, Hypoplastic fingernail, Chronic irritative conjunctivitis, Curly eyelashes,...	OMIM:258360
Craniolenticulosutural Dysplasia	Brittle hair, Wide anterior fontanel, Scoliosis, Punctate cataract, Posterior Y-sutural cataract,...	OMIM:607812
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Cirrhosis, Elevated circulating hepa...	OMIM:276700
Stiff-Person Syndrome	Depression, Opisthotonus, Anemia, Exaggerated startle response	OMIM:184850
Saul-Wilson Syndrome	Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared...	OMIM:618150
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Thrombocytosis, Leukocytosis	OMIM:618213
De Barsy Syndrome	Kyphoscoliosis, Corneal opacity, Decreased muscle mass, Sparse hair, Cataract, Ventricular septal...	ORPHA:2962
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Motor stereotypy	OMIM:613886
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Corneal erosion, Hypoplasia of penis, Absent eyelashes, Corneal opacity, Absen...	ORPHA:920
15Q Overgrowth Syndrome	Abnormal renal morphology, Scoliosis, Abnormal coccyx morphology, Hydronephrosis, Contracture of ...	ORPHA:314585
Wolcott-Rallison Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Iron deficiency ...	ORPHA:1667
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap...	ORPHA:1788
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Pes cavus, Multiple joint contractures, Exaggerated startle response, Hyporeflexia of lower limbs	ORPHA:320406
Floating-Harbor Syndrome	Kyphoscoliosis, Mesocardia, Hypospadias, Glandular hypospadias, Generalized hypertrichosis, Hirsu...	OMIM:136140
Penile Agenesis	Atrial septal defect, Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent p...	ORPHA:49
3Q29 Microduplication Syndrome	Aniridia, Camptodactyly of toe, Sclerocornea, Cataract, Short neck, Ventricular septal defect, Ir...	ORPHA:251038
Chondrodysplasia Punctata, Autosomal Dominant	Scoliosis, Hip contracture, Sparse hair, Knee flexion contracture, Cataract, Coarse hair	OMIM:118650
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ab...	ORPHA:2237
Neurocardiofaciodigital Syndrome	Double inlet left ventricle, Vesicoureteral reflux, Sparse eyebrow, Tetralogy of Fallot, Scleroco...	OMIM:619869
Peters Plus Syndrome	Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Sacral dimple, Spina bifida occulta,...	ORPHA:709
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Irritability, Joint contracture, Short attention span, Exaggerated startle response	OMIM:617864
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ...	ORPHA:2973
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior	OMIM:620292
Nasopalpebral Lipoma-Coloboma Syndrome	Abnormal eyelash morphology, Corneal opacity, Conjunctival hyperemia, Sparse eyebrow, Cataract, W...	ORPHA:2399
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Muscular ventricular septal defect, Head-banging, Intrinsic hand muscle atrophy, Low anterior hai...	OMIM:618569
Menkes Disease	Hypopigmentation of hair, Woolly hair, Prolonged neonatal jaundice, Bladder diverticulum, Sparse ...	ORPHA:565
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Hypospadias, Facial hypotonia, Dysphagia, Motor stereotypy, Repetitive compulsive behavior, Bruxism	OMIM:300260
Megalocornea-Intellectual Disability Syndrome	Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Scoliosis, Megalocornea, Kyphosi...	ORPHA:2479
Microphthalmia, Syndromic 3	Butterfly vertebrae, Hypospadias, Hemivertebrae, Vertebral hypoplasia, Sclerocornea, Cataract, Ve...	OMIM:206900
Gabriele-De Vries Syndrome	Breast hypoplasia, Astigmatism, Oral-pharyngeal dysphagia, Facial hypotonia, Patent foramen ovale...	ORPHA:506358
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Thymic hormone decreased, Kyphosis, Hip contracture, Proteinur...	OMIM:216400
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Ankle flexion contracture, Myopic astigmatism, Long eyelashes, Dysphagia, Motor stereotypy	OMIM:617802
Bardet-Biedl Syndrome 12	Abdominal mass, Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Fanconi-Bickel Syndrome	Hepatomegaly, Generalized aminoaciduria, Renal tubular acidosis, Hypercalciuria, Increased hepati...	ORPHA:2088
Trichodermodysplasia-Dental Alterations Syndrome	Sparse or absent eyelashes, Brittle hair, Scoliosis, Hyperlordosis, Sparse scalp hair, Sparse lat...	ORPHA:3353
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Penoscrotal hypospadias, Partial an...	OMIM:618280
Sotos Syndrome	Ureteral duplication, Small nail, Kyphosis, Prolonged neonatal jaundice, Abnormal heart morpholog...	ORPHA:821
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Thoracic kyphosis, Motor stereotypy	OMIM:619092
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Hypospadias, Peters anomaly, Histiocytoid cardiomyopathy, Chorde...	OMIM:309801
Childhood Disintegrative Disorder	Urinary incontinence, Motor stereotypy	ORPHA:168782
Granular Corneal Dystrophy Type Ii	Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube...	ORPHA:98963
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati...	OMIM:607361
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Urinary incontinence, Scoliosis, Neurogenic bladder, Hirsutism, Sparse eyebrow, Skeletal muscle a...	ORPHA:496641
Epithelial Recurrent Erosion Dystrophy	Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,...	ORPHA:293381
Revesz Syndrome	Aplastic anemia, Nail dystrophy, Macrocytic anemia, Megalocornea, Bone marrow hypocellularity, Na...	OMIM:268130
Orofaciodigital Syndrome Type 1	Elevated circulating hepatic transaminase concentration, Renal insufficiency, Brittle hair, Pancr...	ORPHA:2750
Prader-Willi Syndrome Due To Translocation	Abnormality of the kidney, Abnormal temper tantrums, Hypopigmentation of hair, Head-banging, Scol...	ORPHA:177907
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Kyphoscoliosis, Renal hypoplasia/aplasia, Abnormal renal morphology, Patent foramen ovale, Hyperl...	ORPHA:363700
Developmental And Epileptic Encephalopathy 68	Flexion contracture, Exaggerated startle response	OMIM:618201
Cirrhotic Cardiomyopathy	Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Conjunctival icterus, Ascites, Right ...	ORPHA:57777
Oeis Complex	Epispadias, Hydroureter, Duplicated collecting system, Vesicovaginal fistula, Pelvic kidney, Hemi...	OMIM:258040
Costello Syndrome	Rhabdomyosarcoma, Lymphangiectasis, Thin nail, Wide anterior fontanel, Hypertrophic cardiomyopath...	OMIM:218040
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Inappropriate laughter, Motor stereotypy, Stereotypical hand wringing	OMIM:614104
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Agitation, Hepatomegaly, Motor stereotypy	ORPHA:927
Netherton Syndrome	Brittle hair, Sparse scalp hair, Brittle scalp hair, Sparse eyebrow, Hypereosinophilia	OMIM:256500
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Ascites, Biliary...	OMIM:619534
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the kidney, Anemia, Hypoplasia of penis, Recurrent urinary tract infections, Hydro...	ORPHA:847
Wiedemann-Rautenstrauch Syndrome	Kyphoscoliosis, Corneal opacity, Atlantoaxial abnormality, Pulmonic stenosis, Congenital malforma...	ORPHA:3455
Recessive X-Linked Ichthyosis	Attention deficit hyperactivity disorder, Opacification of the corneal stroma	ORPHA:461
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Abnormal anterior chamber morphology, Tricuspid valve prolapse, Astigmatism, Scoliosis, Microcorn...	OMIM:601776
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Anemia, Scoliosis, Aplasia/Hypoplasia of the eyebrow, Attention deficit hyperactivity disorder, A...	ORPHA:2637
Monosomy 22Q13.3	Sacral dimple, Hair-pulling, Hyperactivity, Vesicoureteral reflux, Long eyelashes, Hydronephrosis...	ORPHA:48652
Microphthalmia/Coloboma 12	Vesicoureteral reflux, Corneal opacity, Peters anomaly	OMIM:120200
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Lymph...	ORPHA:829
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Micropenis, Self-mutilation, Motor stereotypy	ORPHA:457240
Menkes Disease	Alopecia, Sparse hair, Brittle hair	OMIM:309400
Campomelic Dysplasia	Kyphoscoliosis, Hypospadias, Poorly ossified cervical vertebrae, Wide anterior fontanel, Scoliosi...	OMIM:114290
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Scoliosis, Corneal opacity, Abnormal curvature of the vertebral column...	ORPHA:90348
Craniolenticulosutural Dysplasia	Brittle hair, Scoliosis, Posterior Y-sutural cataract, Posterior wedging of vertebral bodies, Spa...	ORPHA:50814
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentrati...	OMIM:615234
Mandibuloacral Dysplasia With Type B Lipodystrophy	Brittle hair, Flexion contracture, Sparse hair, Stage 5 chronic kidney disease, Alopecia	OMIM:608612
Renpenning Syndrome 1	Situs inversus totalis, Hypospadias, Brittle hair, Phimosis, Scoliosis, Camptodactyly, Sparse lat...	OMIM:309500
Caroli Syndrome	Elevated circulating hepatic transaminase concentration, Conjunctival icterus, Leukopenia, Abnorm...	ORPHA:480520
Acquired Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Calf muscle pseudohypertrophy, Cardiomyopathy, Acute pancreatitis, Gener...	ORPHA:79086
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Neutropenia, Hemophagocytosis, Anemia, Lymphadenopathy, Silver-gray hair,...	OMIM:214500
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Secundum atrial septal defect, Motor stereotypy, Attention deficit hyperactivity d...	OMIM:620242
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypospadias, Hydronephrosis, Thrombocytopenia, Aplasia/Hypoplasia of the nails, Absent ga...	ORPHA:163979
Mietens Syndrome	Cataract, Microcornea, Sclerocornea, Corneal opacity	ORPHA:2557
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, Abnormal heart morphology, Proteinuria, Sparse hair, Hepatic cysts, ...	OMIM:311200
Tibial Hemimelia	Absent tibia	OMIM:275220
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormal temper tantrums, Hypocalciuria, Abnormality of hair texture, Hypophosphaturia, Scapular ...	ORPHA:73223
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Hypoplastic toenails, Urinary incontinence, Hypospadias, Pelvic kidney, Scoliosis, Grade III vesi...	OMIM:619522
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Scoliosis, Compulsive behaviors, Motor stereotypy, Aggressive behavior	OMIM:618430
Hyperekplexia 1	Umbilical hernia, Exaggerated startle response, Inguinal hernia, Hip dislocation	OMIM:149400
Johanson-Blizzard Syndrome	Conjunctival icterus, Ascites, Urethrovaginal fistula, Splenomegaly, Intrahepatic cholestasis, Hy...	OMIM:243800
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Hepatosplenomegaly, Motor stereotypy	ORPHA:397612
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Agitation, Sacral dimple, High anterior hairline, Limb hypertonia, Scoliosis, Hyperlordosis, Ster...	OMIM:619950
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp...	OMIM:115197
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Odontoonychodermal Dysplasia	Nail dysplasia, Dystrophic fingernails, Thin nail, Ridged nail, Dystrophic toenail, Sparse scalp ...	OMIM:257980
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow	OMIM:617412
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia	OMIM:272800
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Broad eyebrow, Scoliosis, Hemivertebrae, Kyphosis, Curly hai...	OMIM:617140
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Woolly hair	OMIM:610193
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma...	ORPHA:699
Cystinosis, Nephropathic	Recurrent corneal erosions, Polydipsia, Generalized aminoaciduria, Corneal crystals, Splenomegaly...	OMIM:219800
Granular Corneal Dystrophy Type I	Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ...	ORPHA:98962
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response	ORPHA:3198
Weaver Syndrome	Thin nail, Scoliosis, Diastasis recti, Polyphagia, Kyphosis, Camptodactyly, Deep-set nails, Spars...	OMIM:277590
Arboleda-Tham Syndrome	Astigmatism, Lower limb amyotrophy, Recurrent urinary tract infections, Highly arched eyebrow, Sp...	OMIM:616268
Dentici-Novelli Neurodevelopmental Syndrome	Cataract, Motor stereotypy	OMIM:619877
Olmsted Syndrome 2	Alopecia universalis, Sparse hair, Woolly hair, Flexion contracture of digit	OMIM:619208
Wiedemann-Steiner Syndrome	Sacral dimple, Hyperactivity, Dilatation of renal calices, Long eyelashes, Synophrys, Generalized...	ORPHA:319182
Diamond-Blackfan Anemia 21	Anemia, Erythroid hypoplasia, Synophrys, Horizontal eyebrow, Secundum atrial septal defect, Throm...	OMIM:620072
Mucolipidosis Type Iv	Corneal opacity, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:578
Cutis Laxa, Autosomal Recessive, Type Iiib	Developmental glaucoma, Elbow flexion contracture, Flexion contracture, Sparse hair, Cataract, Fi...	OMIM:614438
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Onycholysis, Fine hair, Hypoplastic toenails	ORPHA:1028
Sclerosteosis 1	Abnormal pelvic girdle bone morphology, Cognitive impairment, Deviation of finger, Cortically den...	OMIM:269500
Myhre Syndrome	Enlarged vertebral pedicles, Skeletal muscle hypertrophy, Camptodactyly, Cataract, Aortic valve s...	OMIM:139210
Erythrokeratodermia Variabilis Et Progressiva 7	Dystrophic toenail, Woolly hair	OMIM:619209
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Scoliosis, Corneal opacity, Ovoid vertebral bodies, Ectopia pupillae, Platyspondyly, Lens subluxa...	ORPHA:85167
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Generalized amin...	OMIM:251880
Premature Aging Syndrome, Penttinen Type	Scoliosis, Corneal stromal edema, Corneal opacity, Joint contracture, Flexion contracture of fing...	OMIM:601812
5Q14.3 Microdeletion Syndrome	Thick eyebrow, Motor stereotypy	ORPHA:228384
Spinocerebellar Ataxia-Dysmorphism Syndrome	Coarse hair, Spina bifida occulta	ORPHA:1185
White-Kernohan Syndrome	Hydroureter, Long eyelashes, Horizontal eyebrow, Synophrys, Hydronephrosis, Thick eyebrow, Attent...	OMIM:619426
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Persistent pupillary membrane, Sparse eyelashes, Sparse hair, Cataract, Fine hair	OMIM:257850
Webb-Dattani Syndrome	Hyposthenuria, Neurogenic bladder, Hydronephrosis, Vesicoureteral reflux	OMIM:615926
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Astigmatism, High anterior hairline, Hyperactivity, Recurrent urinary tract infe...	OMIM:615873
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Ventricular septal hypertrophy, Elevated circulating hepatic transaminase concentratio...	OMIM:269700
Pachyonychia Congenita 2	Nail dysplasia, Nail dystrophy, Sparse scalp hair, Sparse eyebrow, Subungual hyperkeratosis, Dry ...	OMIM:167210
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	High anterior hairline, Anemia, Patent foramen ovale, Vesicoureteral reflux, Scoliosis, Nephrolit...	ORPHA:438213
Multiple Mitochondrial Dysfunctions Syndrome 7	Irritability, Exaggerated startle response, Hypernatremia, Dystonia, Thrombocytopenia, Ankle clon...	OMIM:620423
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Diastasis recti, Wrist flexion contracture, Camptodactyly, Hydronephrosis, Flexion contracture of...	ORPHA:254528
Fontaine Progeroid Syndrome	Platyspondyly, Small nail, Hypoplasia of the abdominal wall musculature, Scoliosis, Wide anterior...	OMIM:612289
Congenital Myopathy 17	Renal hypoplasia, Hydronephrosis, Ureteropelvic junction obstruction, Distal arthrogryposis, Diap...	OMIM:618975
Craniofacioskeletal Syndrome	Hypospadias, Hydronephrosis, Absent gallbladder, Atrial septal defect, Ventricular septal defect	OMIM:300712
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe...	OMIM:208500
Proboscis Lateralis	Unilateral renal agenesis, Microcornea, Corneal opacity, Abnormal eyebrow morphology, Ureteral ag...	ORPHA:141099
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Congenital diaphragmatic hernia, Elbow flexion ...	OMIM:200980
Intellectual Developmental Disorder, Autosomal Dominant 42	Aggressive behavior, Limb hypertonia, Neurogenic bladder, Phonic tics, Ureteropelvic junction obs...	OMIM:616973
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Renal artery atherosclerosis, Vacuolated lymphocytes, Rimmed vacuoles...	ORPHA:565612
Gm1 Gangliosidosis Type 1	Broad long bone diaphyses, Short long bone, Broad metacarpals, Flared iliac wing, Exaggerated sta...	ORPHA:79255
Rett Syndrome	Agitation, Scoliosis, Stereotypical hand wringing, Skeletal muscle atrophy, Motor stereotypy, Bru...	ORPHA:778
Charge Syndrome	Abnormal aortic valve morphology, Iris coloboma, Highly arched eyebrow, Scoliosis, Vesicoureteral...	ORPHA:138
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hirsutism, Card...	OMIM:608594
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Nail dysplasia, Nail dystrophy, Ureteral duplication, Aniridia, ...	OMIM:305600
Plaa-Associated Neurodevelopmental Disorder	Rocker bottom foot, Hyperextensibility of the finger joints, Postaxial hand polydactyly, Exaggera...	ORPHA:521426
Hallermann-Streiff Syndrome	Hyperactivity, Scoliosis, Hyperlordosis, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Spa...	OMIM:234100
Hallermann-Streiff Syndrome	Abnormality of hair texture, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Developmental ca...	ORPHA:2108
Marshall-Smith Syndrome	Kyphoscoliosis, Atlantoaxial dislocation, Brittle hair, Highly arched eyebrow, Scoliosis, Thoraci...	OMIM:602535
Kabuki Syndrome 1	Abnormal vertebral morphology, Highly arched eyebrow, Scoliosis, Hirsutism, Autoimmune thrombocyt...	OMIM:147920
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Nail dysplasia, Brittle hair, Progressive hypotrichosis, Sparse eyelashes, Sparse eyebrow, Pili t...	OMIM:225060
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal in...	ORPHA:731
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia	ORPHA:208447
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated circulating hepatic transaminase concentration, Hyperactivity, Kyphosis, Impulsivity, Bi...	OMIM:619475
Copper Deficiency, Familial Benign	Early balding, Anemia, Curly hair	OMIM:121270
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Leukocytosis, Hepatosplenomegaly, Splenomegaly, T...	ORPHA:457077
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Fine hair	ORPHA:3236
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria...	OMIM:221900
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Neurogenic bladder, Dysphagia, Motor stereotypy	ORPHA:572013
Encephalocraniocutaneous Lipomatosis	Tricuspid valve prolapse, Iris coloboma, Abnormal eyelash morphology, Corneal opacity, Aortic val...	ORPHA:2396
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Exaggerated startle response, Cognitive impairment, Postaxial polydactyly, Lo...	OMIM:617527
Den Hoed-De Boer-Voisin Syndrome	Agitation, Recurrent urinary tract infections, Scoliosis, Stereotypical hand wringing, Thick eyeb...	OMIM:619229
Microphthalmia With Brain And Digit Anomalies	Nail dysplasia, Microcornea, Sclerocornea, Cataract, Iris coloboma	ORPHA:139471
Kindler Epidermolysis Bullosa	Anemia, Phimosis, Corneal opacity, Camptodactyly of finger, Conjunctivitis, Abnormal toenail morp...	ORPHA:2908
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Nephrotic syndrome, Hep...	ORPHA:60
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Flared metaphysis, Increased bone mineral density, Coarse metaphyseal trabecularization, Hip dysp...	OMIM:620558
Osteogenesis Imperfecta	Abnormal endocardium morphology, Vertebral compression fracture, Enlarged vertebral pedicles, Hyp...	ORPHA:666
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Hypospadias, Peters anomaly, Wide anterior fontanel, ...	OMIM:261540
Acromelic Frontonasal Dysplasia	Patellar hypoplasia, Midline central nervous system lipomas, Aplasia/Hypoplasia of the tibia, Pre...	ORPHA:1827
Macular Corneal Dystrophy	Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy...	ORPHA:98969
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplastic/hypoplastic toenail, Hypoplasia of penis, Aplasia/Hypoplasia of the eyebrow, Fine hair, ...	ORPHA:1812
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Alopecia of scalp, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph no...	OMIM:602450
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Prolonged neonatal jaundice, Sparse hair, Fine hair, Muscular ventricular septal defect, Polycyst...	OMIM:210710
Bainbridge-Ropers Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Highly arched eyebrow, Scoli...	OMIM:615485
Niemann-Pick Disease, Type C2	Jaundice, Hepatomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Axillary pterygium, Ectopic kidney, Pterygium, Corneal ulceration, Small nai...	OMIM:263650
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Hypospadias, Microcornea, Long eyelashes, Sclerocornea, Ectopia pupillae, Cataract	OMIM:615877
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Sacral dimple, Astigmatism, Cyst of the ductus choledochus, Scoliosis, Hypoplastic nipples, Cardi...	ORPHA:480880
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Scoliosis, Horizontal eyebrow, Abnormal location of the eyebrow, Lumbar hyperlordosis, Motor ster...	ORPHA:522077
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Highly arched eyebrow, Iris atrophy, Pulmonic stenosis, Aortic valve stenos...	ORPHA:261552
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosis, Abnormality of neutrophil ph...	ORPHA:2968
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma, Visceromegaly, Hepatosplenomegaly	OMIM:256540
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Hyperoxaluria, Pathologic fracture	OMIM:259900
Hyperparathyroidism, Neonatal Severe	Polydipsia, Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Spleno...	OMIM:239200
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Short neck, Fine hair, Thick eyebrow, Hyposegmentation of neutrophil nuclei	OMIM:614800
Adult Syndrome	Breast hypoplasia, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, Sparse scalp ...	ORPHA:978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Muscular dystrophy, Corneal opacity, Megalocornea, Cataract, Congenital contracture, Renal dyspla...	OMIM:236670
Osteopetrosis With Renal Tubular Acidosis	Osteopetrosis, Anemia, Pancytopenia, Hypocalcemia, Elevated circulating creatine kinase concentra...	ORPHA:2785
Fetal Hydantoin Syndrome	Coarse hair, Hypoplastic fingernail, Low posterior hairline	ORPHA:1912
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:210500
Pfeiffer Syndrome Type 3	Hydronephrosis, Horseshoe kidney, Vesicoureteral reflux	ORPHA:93260
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Fine hair, Alopecia	ORPHA:228390
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Pelvis-Shoulder Dysplasia	Spina bifida occulta, Back pain, Opacification of the corneal stroma, Lumbar hyperlordosis, Iris ...	OMIM:169550
Degcags Syndrome	Premature graying of hair, Cholestasis, Abnormal spleen morphology, Low posterior hairline, Pulmo...	OMIM:619488
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormality of the kidney, Hydroureter, Abnormal intervertebral disk morphology, Loss of eyelashe...	ORPHA:2636
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	High anterior hairline, Hypoplastic coccygeal vertebrae, Hyperactivity, Compulsive behaviors, Fre...	OMIM:619512
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Abnormal toenail morphology, Orotic acid cryst...	ORPHA:30
Fraser Syndrome 1	Renal hypoplasia/aplasia, Hypospadias, Small nail, Absent eyelashes, Corneal opacity, Absent eyeb...	OMIM:219000
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Megaloblastic anemia, Developmental cataract, Abnormality of hair texture	ORPHA:79351
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Depression, Exaggerated startle response	OMIM:620114
Spastic Tetraplegia And Axial Hypotonia, Progressive	Overlapping toe, Exaggerated startle response, Ankle clonus	OMIM:618598
Lysinuric Protein Intolerance	Argininuria, Elevated circulating hepatic transaminase concentration, Decreased glomerular filtra...	ORPHA:470
Chand Syndrome	Nail dysplasia, Curly hair	OMIM:214350
Lacrimoauriculodentodigital Syndrome	Recurrent corneal erosions, Nail dysplasia, Corneal neovascularization, Corneal ulceration, Limba...	ORPHA:2363
Kinsship Syndrome	Sacral dimple, Scoliosis, Synophrys, Renal hypoplasia, Motor stereotypy, Short neck, Bruxism, Hor...	OMIM:619297
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Premature graying of hair, Nail dysplasia, Nail dystrophy, Anemia, Scoliosis, Bone marrow hypocel...	OMIM:612199
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Dyspha...	ORPHA:261537
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Dystrophic fingernails, Hyperconvex fingernails, Dystrophic toenail, Sparse eyelashes, Sparse eye...	ORPHA:1071
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Tongue thrusting, Limb hypertonia, Recurrent hand flapping, Impulsivity, Motor stereotypy, Attent...	OMIM:619580
Charge Syndrome	Pulmonic stenosis, Dysphagia, Dysplastic tricuspid valve, Lymphopenia, Scoliosis, Hemivertebrae, ...	OMIM:214800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hair-pulling, Nail-biting, Polyphagia, Fixated interests, Hydronephrosis, Motor stereotypy, Self-...	OMIM:620330
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:30391
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Anterior polar cataract, Renal tubular acidosis, Head-banging, Frequent temper tantrums, Motor st...	OMIM:619575
Alstrom Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic active hepatitis, ...	OMIM:203800
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cholelithiasis, Myopic astigmatism, Hyperlordosis, Synophrys, Hepatosplenomegaly, M...	OMIM:301066
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Rhabdomyosarcoma, Hyperactivity, Recurrent urinary tract infections,...	OMIM:251260
Chromosome 8Q21.11 Deletion Syndrome	Camptodactyly, Sclerocornea, Cataract, Short neck, Micropenis	OMIM:614230
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Motor stereotypy	OMIM:613443
Moebius Syndrome	Aplasia of the pectoralis major muscle, Breast aplasia, Corneal opacity, Facial palsy, Skeletal m...	ORPHA:570
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Premature graying of hair, Increased mean corpuscular volume, Portal hypertension, Thrombocytopen...	OMIM:620367
Neuroocular Syndrome	Sacral dimple, Brittle hair, Highly arched eyebrow, Small nail, Patent foramen ovale, Stellate ir...	OMIM:619539
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Facial hypotonia, Diastasis recti, Overfriendliness, Motor stereotypy, Supernumerary nipple	OMIM:616579
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
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom...	OMIM:130650
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent corneal erosions, Nail dysplasia, Corneal neovascularization, Nail dystrophy, Periungua...	OMIM:308205
Mowat-Wilson Syndrome	Urinary incontinence, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Dyspha...	ORPHA:2152
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Platyspondyly, Scoliosis, Hydronephrosis, Moderate albuminuria	OMIM:619269
Apert Syndrome	Overriding aorta, Hydronephrosis, Ventricular septal defect, Cervical C5/C6 vertebrae fusion	OMIM:101200
Late Infantile Neuronal Ceroid Lipofuscinosis	Obsessive-compulsive trait, Astigmatism, Hyperactivity, Motor stereotypy, Aggressive behavior	ORPHA:168491
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperphosphatu...	OMIM:616026
Roberts-Sc Phocomelia Syndrome	Ankle flexion contracture, Hypospadias, Long penis, Accessory spleen, Polycystic kidney dysplasia...	OMIM:268300
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Myositis, Scoliosis...	OMIM:620565
Autosomal Recessive Cutis Laxa Type 1	Multiple bladder diverticula, Recurrent urinary tract infections, Vesicoureteral reflux, Urethral...	ORPHA:90349
Hyperekplexia 2	Exaggerated startle response, Hiatus hernia	OMIM:614619
Cutis Laxa, Autosomal Recessive, Type Ia	Congenital diaphragmatic hernia, Bladder diverticulum	OMIM:219100
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma, Abnormal fingernail morphology, Alopecia	ORPHA:3453
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased...	OMIM:232220
Hydrolethalus Syndrome 1	Accessory spleen, Upper limb undergrowth, Postaxial hand polydactyly, Omphalocele, Duplication of...	OMIM:236680
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Microphallus, Motor stereotypy, Micropenis, Self-mutilation	OMIM:300486
Foxg1 Syndrome Due To 14Q12 Microdeletion	Scoliosis, Macroglossia, Motor stereotypy, Kyphosis	ORPHA:261144
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Spina bifida occulta, Iris cyst, Microcornea, Po...	OMIM:612109
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Nail dystrophy, Anemia, Onychogryposis, Corneal opacity, Distal lower limb amyotrophy, Alopecia	ORPHA:79396
Hyperekplexia 3	Exaggerated startle response, Hiatus hernia	OMIM:614618
Chromosome 15Q11.2 Deletion Syndrome	Compulsive behaviors, Joint contracture, Abnormal heart morphology, Motor stereotypy, Attention d...	OMIM:615656
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Ascites, Polysplenia, Short neck, Hepatic fibrosis, Pancreatic fib...	OMIM:200995
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased...	OMIM:232200
Arima Syndrome	Polydipsia, Polyuria, Cirrhosis, Nephronophthisis, Hematuria, Hepatomegaly, Anemia, Tubulointerst...	OMIM:243910
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Microphthalmia/Coloboma 9	Ocular anterior segment dysgenesis, Sclerocornea, Microcornea, Iris coloboma	OMIM:615145
Familial Tumoral Calcinosis	Calcification of muscles, Nephrocalcinosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Dense posterior cortical cataract, Aggressive b...	OMIM:309000
Asparagine Synthetase Deficiency	Irritability, Long foot, Hypoasparaginemia, Tremor, Exaggerated startle response, Micrognathia, L...	OMIM:615574
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen...	ORPHA:91495
Alström Syndrome	Urinary incontinence, Elevated circulating hepatic transaminase concentration, Recurrent cystitis...	ORPHA:64
X-Linked Intellectual Disability, Cantagrel Type	Motor stereotypy	ORPHA:85277
Argininemia	Anorexia, Hepatomegaly, Portal fibrosis, Oroticaciduria, Reduced erythrocyte arginase activity, H...	OMIM:207800
Wolf-Hirschhorn Syndrome	Sacral dimple, Iris coloboma, Hypospadias, Abnormal form of the vertebral bodies, Accessory splee...	OMIM:194190
Granulomatosis With Polyangiitis	Glomerulopathy, Hematuria, Pancreatitis, Ureteral stenosis, Pericarditis, Hydronephrosis, Protein...	ORPHA:900
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph...	ORPHA:2879
Camurati-Engelmann Disease	Anorexia, Hepatomegaly, Anemia, Abnormality of the vertebral column, Scoliosis, Hyperlordosis, Fa...	ORPHA:1328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Flexion contracture,...	OMIM:253800
Neurofibromatosis Type 1	Rhabdomyosarcoma, Abnormal hair quantity, Scoliosis, Corneal opacity, Heterochromia iridis, Kypho...	ORPHA:636
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Attention deficit hyperactivity disorder, Urinary incontinence, Motor stereotypy	ORPHA:98784
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail...	ORPHA:171
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Nail dystrophy, Decreased glomerular filtration rate, Sparse scalp hair, Focal segmental glomerul...	OMIM:614748
Otopalatodigital Syndrome, Type Ii	Kyphoscoliosis, Spondylolysis, Hypospadias, Wide anterior fontanel, Cataract, Hydronephrosis, Pla...	OMIM:304120
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Motor stereotypy, Facial hypotonia	OMIM:617807
Pilarowski-Bjornsson Syndrome	Broad eyebrow, Motor stereotypy, Long eyelashes	OMIM:617682
Gelatinous Drop-Like Corneal Dystrophy	Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op...	ORPHA:98957
Nicolaides-Baraitser Syndrome	Scoliosis, Sparse scalp hair, Low posterior hairline, Long eyelashes, Absent eyebrow, Low anterio...	OMIM:601358
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Clinodactyly of the 5th finger, Exaggerated startle response	OMIM:618056
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response, Dementia	OMIM:272750
Pearson Marrow-Pancreas Syndrome	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neutropenia, Ref...	OMIM:557000
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Galloway-Mowat Syndrome 1	Small nail, Focal segmental glomerulosclerosis, Camptodactyly, Nephrotic syndrome, Hypoplasia of ...	OMIM:251300
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent hair, Absent nipple, Sparse hair, Brittle hair	OMIM:614940
Frontonasal Dysplasia 2	Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia totalis, Fine hair	OMIM:613451
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Brittle hair, Absent eyelashes, Hypoplastic nipples, Absent nipple, Aplasia/Hypoplastia of the ec...	OMIM:305100
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular...	ORPHA:3144
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Coarse hair, Thick hair, Decreased muscle mass, Sparse hair	ORPHA:357074
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Rhabdomyosarcoma, Multipl...	ORPHA:116
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Ascites, Leukocytosis, Nephrotic syndrome, Pericarditis, Nephrocal...	ORPHA:342
Congenital Primary Aphakia	Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C...	ORPHA:83461
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Thick eyebrow, Motor stereotypy	ORPHA:529965
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Splenomegaly, Renal a...	OMIM:249100
Woolly Hair-Skin Fragility Syndrome	Woolly hair	OMIM:620415
Hutchinson-Gilford Progeria Syndrome	Dystrophic fingernails, Abnormal aortic valve morphology, Loss of eyelashes, Corneal ulceration, ...	ORPHA:740
Neutral Lipid Storage Myopathy	Generalized limb muscle atrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	ORPHA:98908
Classical Ehlers-Danlos Syndrome	Tricuspid valve prolapse, Scoliosis, Bladder diverticulum, Mitral valve prolapse, Abnormal cornea...	ORPHA:287
Hereditary Acrokeratotic Poikiloderma	Abnormal renal tubule morphology, Nail dystrophy, Dystrophic fingernails, Abnormal preputium morp...	ORPHA:2907
Viss Syndrome	Atrial septal defect, Butterfly vertebrae, Alopecia, Patent foramen ovale, Contracture of the pro...	OMIM:619472
Hydroxykynureninuria	Motor stereotypy, Renal tubular acidosis	ORPHA:79155
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Kyphoscoliosis, Unilateral renal agenesis, Broad lateral eyebrow, Hemivertebrae, Curly hair, Spar...	ORPHA:500150
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Abnormal renal collecting system morphology, Ankle flexion contracture, Unilateral renal agenesis...	ORPHA:468631
Tyrosinemia Type 2	Abnormality of the nail, Corneal opacity	ORPHA:28378
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Short attention span, Exaggerated startle response	ORPHA:438216
Genitopatellar Syndrome	Multicystic kidney dysplasia, Scoliosis, Sparse scalp hair, Hip contracture, Hydronephrosis, Dysp...	OMIM:606170
Yunis-Varon Syndrome	Hypospadias, Renal artery stenosis, Cardiomyopathy, Cataract, Sparse scalp hair, Sparse eyelashes...	ORPHA:3472
Van Den Ende-Gupta Syndrome	Sacral dimple, Camptodactyly of 2nd-5th fingers, Elbow flexion contracture, Camptodactyly of toe,...	OMIM:600920
Van Esch-O'Driscoll Syndrome	Pulmonary valve atresia, Sacral dimple, Spina bifida occulta, Scoliosis, Impulsivity, Motor stere...	OMIM:301030
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Small nail, Corneal opacity, Thin eyebrow, Synophrys	ORPHA:364577
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal hypertrophy, Small nail, Corneal opacity, Synophrys, Thin eyebrow, Ventricular...	OMIM:608670
Noonan Syndrome 1	Kyphoscoliosis, Juvenile myelomonocytic leukemia, Hypospadias, Amegakaryocytic thrombocytopenia, ...	OMIM:163950
Osteopathia Striata With Cranial Sclerosis	Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ...	OMIM:300373
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Vertebral compression fracture, Abnormality of the ...	ORPHA:29073
Acrofacial Dysostosis, Cincinnati Type	Biventricular hypertrophy, Hypoplastic toenails, Cleft anterior mitral valve leaflet, Pterygium, ...	OMIM:616462
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Rett Syndrome, Congenital Variant	Tongue thrusting, Scoliosis, Kyphosis, Motor stereotypy, Bruxism	OMIM:613454
Primary Hyperoxaluria	Generalized osteosclerosis, Hyperoxaluria, Recurrent fractures	ORPHA:416
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Urinary incontinence, Hair-pulling, Hyperactivity, Synophrys, Dysphagia, Motor stereotypy, Multip...	ORPHA:447997
Coffin-Siris Syndrome 12	High anterior hairline, Elevated circulating hepatic transaminase concentration, Hypospadias, Sma...	OMIM:619325
Robinow Syndrome, Autosomal Dominant 1	Nail dysplasia, Sacral dimple, Wide anterior fontanel, Long eyelashes, Hydronephrosis, Renal dupl...	OMIM:180700
Vascular Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the eyebrow, Hypospadias, Abnormal heart valve morphology, Keratoconus, Abn...	ORPHA:286
Sandhoff Disease	Hepatosplenomegaly, Progressive psychomotor deterioration, Exaggerated startle response	OMIM:268800
Norrie Disease	Aplasia/Hypoplasia of the lens, Scoliosis, Corneal opacity, Hypoplasia of the iris, Attention def...	ORPHA:649
Cerebral Creatine Deficiency Syndrome 1	Attention deficit hyperactivity disorder, Elevated urinary creatine/creatinine ratio, Motor stere...	OMIM:300352
Hypotonia, Ataxia, And Delayed Development Syndrome	Astigmatism, Vesicoureteral reflux, Synophrys, Horizontal eyebrow, Thick eyebrow, Dysphagia, Moto...	OMIM:617330
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Nail dysplasia, Scoliosis, Proteinuria, Motor stereotypy, Sparse hair, Ventricular septal defect	OMIM:616682
Patent Urachus	Urachal cyst, Recurrent urinary tract infections, Congenital posterior urethral valve, Patent ura...	ORPHA:431341
Phace Syndrome	Iris coloboma, Heterochromia iridis, Abnormal heart morphology, Sclerocornea, Tetralogy of Fallot...	ORPHA:42775
Osteogenesis Imperfecta, Type Vii	Wide anterior fontanel, Scoliosis, Hydronephrosis, Vertebral compression fracture	OMIM:610682
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Witteveen-Kolk Syndrome	Congenital diaphragmatic hernia, High anterior hairline, Medial flaring of the eyebrow, Aggressiv...	OMIM:613406
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Sclerocornea	OMIM:300952
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Exaggerated startle response	ORPHA:309155
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy, Motor tics	OMIM:619725
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Exaggerated startle response, Short humerus, Short femur, Tapered finger	OMIM:618367
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Kyphoscoliosis, Torticollis, Motor stereotypy, Thoracic scoliosis, Congenital fibrosis of extraoc...	ORPHA:300570
Mckusick-Kaufman Syndrome	Polycystic kidney dysplasia, Hydronephrosis, Hydroureter, Vesicovaginal fistula	OMIM:236700
Combined Oxidative Phosphorylation Deficiency 58	Hyperprolinemia, Hyperalaninemia, Exaggerated startle response	OMIM:620451
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, White hair, Lymphopenia, Fine hair, Abnormality of the pancreas	ORPHA:935
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul...	OMIM:612474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Muscular dystrophy, Hydronephrosis, Micropenis, Opacification of the corneal stroma, Multicystic ...	OMIM:615287
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior	OMIM:610042
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul...	OMIM:106210
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Absent or minimally ossified vertebral bodies, Hypoplasia of penis, Renal cyst, Renal hypoplasia,...	ORPHA:93271
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Nail dysplasia, Aplasia of the epiglottis, Atrioventricular canal defect, Hepatomegaly, Splenomeg...	OMIM:617088
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Highly arched eyebrow, Scoliosis, Hirsutism, Camptodactyly, Syno...	OMIM:301044
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Hypercalciuria, Biliary cirrhosis, Hepatosplenomegaly, Exo...	OMIM:219700
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Developmental And Epileptic Encephalopathy 100	Hypoplastic fingernail, Bilateral camptodactyly, Scoliosis, Elbow flexion contracture, Synophrys,...	OMIM:619777
Mesomelia-Synostoses Syndrome	Hydronephrosis, Abnormal vertebral morphology	OMIM:600383
Chand Syndrome	Nail dysplasia, Hydroureter, Curly hair	ORPHA:1401
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hypospadias, Small nail, Hyperactivity, Scoliosis, Camptodactyly, Low posterior hairline, Flexion...	OMIM:309590
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Primrose Syndrome	Kyphosis, Aggressive behavior, Sparse body hair, Skeletal muscle atrophy, Restlessness, Self-inju...	OMIM:259050
Goodpasture Syndrome	Increased blood urea nitrogen, Anemia	OMIM:233450
Orofaciodigital Syndrome Type 4	Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A...	ORPHA:2753
Autosomal Recessive Faciodigitogenital Syndrome	Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak	ORPHA:1974
Leptospirosis	Anorexia, Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, R...	ORPHA:509
Xeroderma Pigmentosum	Pterygium, Conjunctival telangiectasia, Keratitis, Cataract, Opacification of the corneal stroma,...	ORPHA:910
Woodhouse-Sakati Syndrome	Fine hair, Micropenis, Sparse hair, Alopecia	OMIM:241080
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Hypoplasia of t...	OMIM:175780
Developmental And Epileptic Encephalopathy 2	Scoliosis, Motor stereotypy	OMIM:300672
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Opacification of the corneal stroma	ORPHA:79280
Yunis-Varon Syndrome	Hypospadias, Patent foramen ovale, Hypoplastic nipples, Cardiomyopathy, Sparse scalp hair, Kyphos...	OMIM:216340
Intellectual Developmental Disorder, Autosomal Dominant 38	Hair-pulling, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior	OMIM:616393
Coffin-Lowry Syndrome	Lumbar kyphosis, Hyperconvex fingernails, Highly arched eyebrow, Scoliosis, Kyphosis, Thick eyebr...	OMIM:303600
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Astigmatism, Hyperactivity, Scoliosis, Long eyelashes, Motor stereotypy, Attention deficit hypera...	OMIM:614756
Dermochondrocorneal Dystrophy	Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract	OMIM:221800
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Lower-limb joint contracture, Sparse lateral eyebrow, Stereotypical body rocking, Repetitive comp...	ORPHA:513456
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Renal steatosis, Abnormal tendon morphology, Renal artery stenosis, Myocard...	ORPHA:391665
Microphthalmia, Syndromic 6	Renal hypoplasia, Microcornea, Sclerocornea	OMIM:607932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Muscular dystrophy, Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma	OMIM:253280
Nmda Receptor Encephalitis	Agitation, Hypersexuality, Neoplasm of the thymus, Motor stereotypy	ORPHA:217253

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.

Phenotype	Allele	Zygosity	Life Stage
Liver - MPATH pathological process term hydropic degeneration	Sgsh^em3(IMPC)Tcp	HOM	Early adult
Kidney - MPATH pathological process term vacuolation	Sgsh^em3(IMPC)Tcp	HOM	Early adult
Liver - MPATH pathological process term vacuolation	Sgsh^em3(IMPC)Tcp	HOM	Early adult
Ovary - MPATH pathological process term vacuolation	Sgsh^em3(IMPC)Tcp	HOM	Early adult
Uterus - MPATH pathological process term vacuolation	Sgsh^em3(IMPC)Tcp	HOM	Early adult
Brain - MPATH pathological process term vacuolation	Sgsh^em3(IMPC)Tcp	HOM	Early adult

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 Sgsh.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Neurodevelopmental Changes in Excitatory Synaptic Structure and Function in the Cerebral Cortex of Sanfilippo Syndrome IIIA Mice.	Scientific reports (April 2017)	Sgsh^{tm1a(KOMP)Wtsi}	PMC5394534

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
Sgsh^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sgsh^em3(IMPC)Tcp	Indel	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Sgsh MGI:1350341

Gene Summary

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lacZ Expression

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Immunophenotyping

Human diseases caused by Sgsh mutations

Histopathology

IMPC related publications

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