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Gene: Nalcn MGI:2444306

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Gene Summary

Name:
sodium leak channel, non-selective
Synonyms:
Vgcnl1,  A530023G15Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
microcephaly Nalcnem1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Nalcnem1(IMPC)Mbp HOM   Early adult 0.00
increased neutrophil cell number Nalcnem1(IMPC)Mbp HET Early adult 9.73×10-09
polydactyly Nalcnem1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Nalcnem1(IMPC)Mbp HOM E15.5 0.00
anophthalmia Nalcnem1(IMPC)Mbp HET E15.5 0.00
spina bifida Nalcnem1(IMPC)Mbp HOM E15.5 0.00
enlarged spleen Nalcnem1(IMPC)Mbp HET Early adult 0.00
hemorrhage Nalcnem1(IMPC)Mbp HET E15.5 0.00
increased red blood cell distribution width Nalcnem1(IMPC)Mbp HET Early adult 7.13×10-05
hemorrhage Nalcnem1(IMPC)Mbp HOM E15.5 0.00
syndactyly Nalcnem1(IMPC)Mbp HOM E15.5 0.00
syndactyly Nalcnem1(IMPC)Mbp HET E15.5 0.00
anophthalmia Nalcnem1(IMPC)Mbp HOM E15.5 0.00
abnormal kidney morphology Nalcnem1(IMPC)Mbp HET Early adult 0.00
microcephaly Nalcnem1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Nalcnem1(IMPC)Mbp HET E15.5 0.00
polydactyly Nalcnem1(IMPC)Mbp HET E15.5 0.00
abnormal spleen morphology Nalcnem1(IMPC)Mbp HET Early adult 0.00
spina bifida Nalcnem1(IMPC)Mbp HET E15.5 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

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

Embryo reconstruction

8 Images

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Human diseases caused by Nalcn 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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Distal Arthrogryposis Type 1
Camptodactyly of finger, Rocker bottom foot, Ulnar deviation of finger, Abnormal hip bone morphol... ORPHA:1146
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615419
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Arachnodactyly, Microcephaly, Calcaneovalgus deformity, Adducted thumb, Macrocephaly, Talipes equ... ORPHA:562528
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Arachnodactyly, Microcephaly, Small hand, Elbow flexion contracture, Talipes equ... ORPHA:371364
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Adducted thumb, Ulnar deviation of finger, Aplas... ORPHA:1147
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Hip contracture, Metatarsus adductus, Calcaneovalgus deformity, Elbow flexion contracture, Cerebr... OMIM:616266
Freeman-Sheldon Syndrome
Camptodactyly of finger, Talipes equinovarus, Absent palmar crease, Ulnar deviation of finger ORPHA:2053

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gombo Syndrome
Microcephaly, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly OMIM:233270
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Megalencephaly, Postaxial hand polydactyly, Hydrocephalus, Thick corpus callosum, Mac... OMIM:615938
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Microcephaly OMIM:241000
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Microcephaly OMIM:271109
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Preaxial polydactyly, Spina bifida... ORPHA:64754
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Apnea OMIM:607745
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos OMIM:611638
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Respiratory insufficiency ORPHA:640
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly OMIM:616335
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Seizures, Benign Familial Infantile, 1
Normal interictal EEG, Apnea OMIM:601764
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Polydactyly, Talipes equinova... OMIM:613885
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... ORPHA:957
Mmep Syndrome
Microphthalmia, Split foot, Triphalangeal thumb, Microcephaly ORPHA:3434
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Congenital Varicella Syndrome
Microphthalmia, Cerebral cortical atrophy, Micromelia, Microcephaly ORPHA:291
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous f... OMIM:600384
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microcephaly, Talipes equinovarus, Cerebellar hypoplasia, Microphthalmia, Age... OMIM:616570
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Oculocerebrocutaneous Syndrome
Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Hypoplasia of the corpus callosu... OMIM:164180
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Fatiguable weakness of proximal limb muscles,... ORPHA:90117
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Acalvaria
Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of... ORPHA:945
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Severe Neonatal-Onset Encephalopathy With Microcephaly
EEG with focal slow activity, Apnea, Multifocal epileptiform discharges, Respiratory insufficiency ORPHA:209370
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea OMIM:615228
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of the corpus callosum, Cort... OMIM:615771
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Frontal Encephalocele
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... ORPHA:1931
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Respiratory insufficiency, Abnormal cranial nerve morp... OMIM:605253
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T... OMIM:211960
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Benign Familial Neonatal-Infantile Seizures
Continuous spike and waves during slow sleep, EEG with focal spikes, Apnea ORPHA:140927
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Postaxial foot polyda... ORPHA:139471
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Ravine Syndrome
Apnea, Abnormal auditory evoked potentials ORPHA:99852
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly ORPHA:2935
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Chronic Inflammatory Demyelinating Polyneuropathy
Fatiguable weakness of proximal limb muscles, Decreased nerve conduction velocity, Motor conducti... ORPHA:2932
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Microcephaly, Elbow dislocation, Meningocele,... ORPHA:3265
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Single transverse palmar crease, Anophthalmia, Capitate-hamate fusion... OMIM:206920
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... OMIM:610140
Microcephaly-Cardiomyopathy
Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap, Microcephaly OMIM:251220
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Diarrhea 13
Hepatic steatosis, Hypoalbuminemia OMIM:620357
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... ORPHA:93323
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Thromb... ORPHA:158061
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Decreased hepatic echogenicity, Hypoalbuminemia... OMIM:613752
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Microcephaly, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of... ORPHA:3268
Benign Familial Neonatal Epilepsy
Increased theta frequency activity in EEG, Apnea, Focal EEG discharges with secondary generalization ORPHA:1949
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... OMIM:615297
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... ORPHA:1528
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly OMIM:213010
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly ORPHA:238446
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia OMIM:602079
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia ORPHA:294975
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... OMIM:616050
Myasthenic Syndrome, Congenital, 16
Fatigable weakness, Apnea OMIM:614198
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Phosphoserine Aminotransferase Deficiency
Death in infancy, Apnea OMIM:610992
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia, Microcephaly OMIM:614082
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
EEG abnormality, Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... OMIM:603194
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Respiratory insuffi... OMIM:614399
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Postaxial h... OMIM:611134
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Joubert Syndrome 22
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Temporal cortical ... OMIM:615665
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Lissencephaly 8
Occipital encephalocele, Microcephaly, Hypoplasia of the brainstem, Talipes equinovarus, Hypoplas... OMIM:617255
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... OMIM:611561
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy, Hypsarrhythmia ORPHA:500545
Craniotelencephalic Dysplasia
Absent septum pellucidum, Optic nerve hypoplasia, Frontal encephalocele, Lissencephaly, Cerebella... OMIM:218670
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Spina bifida ORPHA:1104
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Pelvis-Shoulder Dysplasia
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel... ORPHA:2839
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... OMIM:603552
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Narrow femoral neck, Congenital hip dislocation, Delayed phalangeal epiphyseal ossification, Long... OMIM:603546
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Megalencephaly, Hydrocephalus, Progressive macrocephaly, Polydactyly, Microphthalmia,... OMIM:602501
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
EEG with burst suppression, Apnea, Respiratory insufficiency OMIM:617290
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:608323
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Cerebral atrophy, Genu valgum, Cutaneous syndactyly, Hypoplasia ... ORPHA:166024
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Feingold Syndrome Type 2
Toe syndactyly, Microcephaly, Short thumb, Short middle phalanx of finger, Brachydactyly ORPHA:391646
Benign Familial Infantile Epilepsy
Normal interictal EEG, Apnea, Interictal epileptiform activity ORPHA:306
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hydrolethalus
Anophthalmia, Absent septum pellucidum, Micromelia, Postaxial hand polydactyly, Hydrocephalus, An... ORPHA:2189
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Fibronectin Glomerulopathy
Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Microscopic hematuria ORPHA:84090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Abnormal left ventricular function, Ca... OMIM:613155
Seckel Syndrome 2
Microcephaly, Heart murmur, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Microphthalmia OMIM:606744
Septooptic Dysplasia
Optic disc hypoplasia, Absent septum pellucidum, Optic nerve hypoplasia, Polydactyly, Short finge... OMIM:182230
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis, Pancreatitis OMIM:618805
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Schisis Association
Encephalocele, Spina bifida, Micromelia, Microcephaly, Anencephaly ORPHA:63862
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Hy... OMIM:620010
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
2Q24 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... ORPHA:1617
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Macrocephaly, Polydactyly, Microcephaly OMIM:617119
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:605726
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Optic atrophy, Multifocal epileptiform discharges, Hypsarrhythmia, E... ORPHA:79097
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation ORPHA:166063
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Spina bi... ORPHA:1327
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Developmental And Epileptic Encephalopathy 61
Optic atrophy, Apnea OMIM:617933
Czeizel-Losonci Syndrome
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,... ORPHA:2437
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly OMIM:614830
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p... OMIM:616171
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Decreased distal ... OMIM:601098
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity OMIM:611228
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Bardet-Biedl Syndrome 7
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials OMIM:608673
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... ORPHA:1553
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy, Apnea OMIM:618236
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... OMIM:225280
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 43
Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi... OMIM:241600
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, J... OMIM:603553
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal morphology of the radius, Microcephaly ORPHA:3469
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis OMIM:619013
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... OMIM:618528
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Hartsfield Syndrome
Encephalocele, Split hand, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Ap... ORPHA:2117
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... ORPHA:540
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... ORPHA:567548
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:619279
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Abnormality of peripheral nerve conduction, Respiratory insu... ORPHA:90103
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia OMIM:230350
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Macrocephaly, Tapered finger OMIM:618725
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... OMIM:265120
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma ORPHA:882
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Microphthalmia, Type II lissencephaly ORPHA:324416
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Frontonasal Dysplasia 1
Pericallosal lipoma, Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hy... OMIM:136760
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Macrocephaly, Metaphyseal c... OMIM:300863
Temtamy Syndrome
Short toe, Genu varum, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Clinodactyly of t... ORPHA:1777
Neuropathy, Congenital Hypomyelinating, 2
Respiratory insufficiency due to muscle weakness, Decreased motor nerve conduction velocity, Faci... OMIM:618184
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:2070
Developmental And Epileptic Encephalopathy 90
EEG with burst suppression, Apneic episodes in infancy, Hypsarrhythmia OMIM:301058
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Abnor... ORPHA:206594
Congenital Neuronal Ceroid Lipofuscinosis
EEG with burst suppression, Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... OMIM:616860
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Sh... ORPHA:1120
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical... ORPHA:65759
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly OMIM:274270
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Microcephaly OMIM:278780
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Microcephaly, ... ORPHA:370010
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Microcephaly, Hydr... ORPHA:1908
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Microphthalmia, Syndromic 8
Microphthalmia, Split foot, Microcephaly OMIM:601349
Braddock-Carey Syndrome 2
Microphthalmia, Clinodactyly, Microcephaly OMIM:619981
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome... OMIM:251880
Walker-Warburg Syndrome
Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, ... ORPHA:899
Nanophthalmos
Microphthalmia ORPHA:35612
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, EEG abnormality ORPHA:71277
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Hyperammonemia... ORPHA:1667
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity OMIM:612577
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:613313
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcephaly ORPHA:2528
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction ORPHA:65684
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly ORPHA:2440
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Cofs Syndrome
Cerebral calcification, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia of the cerebell... ORPHA:1466
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Apnea, EEG with burst suppression, Optic atrophy, Abnormal autonomic nervous sy... OMIM:614498
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... OMIM:613101
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic disc pallor, Optic atrophy, Apnea, Respiratory insufficiency OMIM:618228
17Q12 Microduplication Syndrome
Microphthalmia, Finger syndactyly, Cortical dysplasia, Toe syndactyly ORPHA:261272
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity OMIM:608236
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Hypomelanosis Of Ito
Syndactyly, Microcephaly, Cerebral atrophy, Hand polydactyly, Radial deviation of finger, Macroce... OMIM:300337
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease OMIM:600251
Trisomy 1Q
Anophthalmia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly,... ORPHA:261344
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Adams-Oliver Syndrome 3
Microcephaly, Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx ... OMIM:614814
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Long Qt Syndrome 8
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... OMIM:618447
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Death in childhood OMIM:618225
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Lym... OMIM:602579
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... OMIM:169550
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Stage 5 chronic kidney disease, N... OMIM:617575
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Microcephaly, Pulmonary arterial hypertension, Hypoplasia of the corpus callosum, Mic... OMIM:300887
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... OMIM:256300
Myoclonus, Intractable, Neonatal
Optic disc pallor, Apnea OMIM:617235
Mitochondrial Complex I Deficiency, Nuclear Type 13
Death in infancy, Apnea OMIM:618235
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign OMIM:162500
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl... OMIM:619091
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum ORPHA:411986
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Peritoneal effusion, Abnormal lymphatic vessel morphology, Ascites, Hypoalbumine... ORPHA:90362
Congenital Enterovirus Infection
Abnormal macrophage morphology, Fetal ascites, Thrombocytopenia, Leukocytosis, Hepatitis, Cholest... ORPHA:292
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity OMIM:616687
Chylomicron Retention Disease
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:246700
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hematuria, Increased mean c... OMIM:617021
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, EEG abnormality, Optic atrophy, Abnormal peripheral action p... ORPHA:457205
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Myasthenic Syndrome, Congenital, 20, Presynaptic
Hypoventilation, Apnea, Facial palsy, Stridor, Fatigable weakness OMIM:617143
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Overlapping toe, Microcephaly, Perisylvian polymicrogyria, Cerebral... OMIM:600118
Fountain Syndrome
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Spina bifida, Macrocephaly, Large ha... ORPHA:3219
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Alg6-Cdg
Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice ORPHA:79320
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... ORPHA:100024
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Restrictive ventilatory defect ORPHA:101077
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Macrocephaly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Curry-Jones Syndrome
Occipital meningocele, Duplication of thumb phalanx, Megalencephaly, Preaxial hand polydactyly, L... OMIM:601707
Fanconi Anemia, Complementation Group R
Tethered cord, Microcephaly, Absent thumb, Hydrocephalus, Microphthalmia, Radial dysplasia OMIM:617244
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:98890
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity OMIM:183050
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity OMIM:615575
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi... OMIM:226300
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Holoprosencephaly, Microcephaly OMIM:147250
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb OMIM:609054
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Megalencephaly, Microceph... OMIM:600325
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Hypoalbuminemia, Focal segmental glomerulosclerosis, Proteinuria OMIM:618347
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... OMIM:617927
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Lissencephaly,... OMIM:616038
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, Death in infancy, EEG with burst suppression, Respiratory in... OMIM:615368
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microcephaly, Simplified gyral pattern, Cerebral atrophy, Cerebellar hypoplasia, Microphthalmia, ... OMIM:251270
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity ORPHA:276435
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Optic disc pallor, Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Leukopenia, Nephrotic syndrome, Focal ... OMIM:617303
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot DECIPHER:46
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Meckel Syndrome, Type 3
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... OMIM:607361
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... OMIM:175700
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steat... OMIM:613070
Summitt Syndrome
Syndactyly OMIM:272350
Joubert Syndrome 33
Apnea OMIM:617767
Charcot-Marie-Tooth Disease Type 4A
Decreased nerve conduction velocity, Restrictive ventilatory defect, Motor conduction block ORPHA:99948
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Agenesis of co... OMIM:207950
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus... ORPHA:163966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of... OMIM:615181
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Null Syndrome
Decreased nerve conduction velocity, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:280234
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Optic atrophy, Apnea, Central hypoventilation OMIM:618233
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity OMIM:608895
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity OMIM:615376
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Dyspnea, Decreased compound muscle action potential amplitude, Facial palsy OMIM:603511
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity OMIM:613287
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Megalencephaly, Abnormally large globe, Hydrocephalus, Thick corpus callos... OMIM:603387
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity ORPHA:352675
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Anemia, Hypoalbuminemia... OMIM:608104
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia ORPHA:100025
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Periventricular Nodular Heterotopia 1
Syndactyly, Cerebral hemorrhage, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short ... OMIM:300049
Pierpont Syndrome
Abnormal cortical gyration, Short toe, Deep palmar crease, Short finger, Primary microcephaly, Pr... ORPHA:487825
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Microphthalmia, Syndromic 13
Microphthalmia, Microcephaly OMIM:300915
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Trisomy 13
Anophthalmia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle ... ORPHA:3378
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity ORPHA:101078
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential OMIM:607706
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Portal hypertension ORPHA:79319
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity OMIM:610100
Joubert Syndrome 16
Encephalocele, Polydactyly, Dandy-Walker malformation OMIM:614465
Kcnq2-Related Epileptic Encephalopathy
EEG with burst suppression, Apnea, Hypsarrhythmia ORPHA:439218
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Moebius Syndrome
Syndactyly, Brachydactyly, Microphthalmia, Split hand, Abnormal pelvic girdle bone morphology, Hy... OMIM:157900
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood OMIM:611523
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity DECIPHER:29
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor, Hypsarrhythmia OMIM:600721
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Microcephaly, Cubitus valgus, Camptodactyly, Microphthalmia, Thin corpus ... OMIM:619694
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Decreased nerve conduction velocity, Abnormal motor evoked potentials ORPHA:99939
Developmental And Epileptic Encephalopathy 99
Central apnea, Multifocal epileptiform discharges OMIM:619606
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp... OMIM:613153
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Apnea, Respiratory insufficiency OMIM:618226
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Macrocephaly, Short palm, Clinodactyly o... ORPHA:3210
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria ORPHA:79238
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia ORPHA:66625
Leukodystrophy, Hypomyelinating, 18
Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity OMIM:618404
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Facial palsy OMIM:118210
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Adams-Oliver Syndrome 2
Single transverse palmar crease, Microcephaly, Hydrocephalus, Cerebral atrophy, Absent distal pha... OMIM:614219
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity OMIM:606595
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum ORPHA:77298
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Hypoalbuminemia, Cirrhosis, Ascites ORPHA:367
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger ORPHA:376
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Restrictive venti... OMIM:218000
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity, Neonatal respiratory distress, Respiratory insufficiency, Co... OMIM:618356
Congenital Myopathy 11
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N... OMIM:214900
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity ORPHA:1188
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Pierpont Syndrome
Microcephaly, Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, Pr... OMIM:602342
Glutamine Deficiency, Congenital
Neonatal death, Neonatal respiratory distress, Apnea OMIM:610015
Nail-Patella Syndrome
Biceps aplasia, Glenoid fossa hypoplasia, Spina bifida, Triceps aplasia, Patellar aplasia, Hypopl... OMIM:161200
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Diffuse cerebral atrophy, Arachnodactyly, Broad hallux, Proximal placement of thum... OMIM:613776
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration OMIM:608800
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hyperammonemia ORPHA:664
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Abnormal epiphysis morphology,... ORPHA:93267
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con... OMIM:618914
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Respiratory failure, Optic atrophy, Abnormality of somatosens... ORPHA:98755
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Nephronophthisis 15
Cerebellar vermis hypoplasia, Polydactyly OMIM:614845
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity OMIM:619862
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Alg1-Cdg
Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia ORPHA:79327
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Tachypnea, Respiratory failure, Inspiratory stridor, Ventila... OMIM:604320
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Optic atr... OMIM:609260
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity ORPHA:99944
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... OMIM:300635
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity OMIM:600361
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Renal insufficiency, Proteinuria, Portal hype... OMIM:619487
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Atypical Rett Syndrome
EEG abnormality, Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:3095
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Decreased nerve conduction velocity, Dyspnea ORPHA:435387
Autosomal Dominant Spastic Paraplegia Type 17
Abnormal motor nerve conduction velocity ORPHA:100998
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Rhinitis ORPHA:93476
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity ORPHA:101081
Grange Syndrome
Aortic regurgitation, Syndactyly, Hypertension, Short palm ORPHA:79094
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... OMIM:607684
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Postaxial polydactyly, Macrocephaly OMIM:300804
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Camptodactyly of finger, Microcephaly, Adducted thumb, Flared metaphysis, Hip... OMIM:610758
Narcolepsy 3
Narcolepsy OMIM:609039
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5... OMIM:274000
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Leukocy... ORPHA:247353
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Apnea OMIM:619527
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity OMIM:302802
Spinal Muscular Atrophy, X-Linked 2
Respiratory insufficiency due to muscle weakness, Decreased compound muscle action potential ampl... OMIM:301830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive mic... OMIM:615249
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormal palmar dermatoglyphics, C... ORPHA:2092
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Hypoplasia o... OMIM:607131
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
Mosaic Trisomy 9
Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Microcephaly, Spina b... ORPHA:99776
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Death in infancy, Apnea, Central hypoventilation OMIM:620167
Meckel Syndrome
Encephalocele, Bowing of the long bones, Anophthalmia, Microcephaly, Preaxial hand polydactyly, P... ORPHA:564
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... OMIM:242150
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Broad hallux, Overlapping toe, Abnormality of the hand, Optic nerve hypopla... ORPHA:508498
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
EEG abnormality, Optic atrophy, Apnea OMIM:261680
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand ORPHA:3152
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Hepatitis... ORPHA:37042
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ... OMIM:109400
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Agenesis of cerebellar vermis,... OMIM:614815
Monosomy 5P
Finger syndactyly, Small hand, Microcephaly ORPHA:281
Cerebrooculonasal Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Postaxial poly... OMIM:605627
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, EEG abnormality, Aspiration pn... ORPHA:314655
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Anophthalmia, Absent septum pellucidum, Aplastic clavicle, Abn... ORPHA:2538
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... OMIM:113000
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia ORPHA:172
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Encephalocele, Portal hypertension... ORPHA:974
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:611762
Wilson Disease
Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbuminemia, Hepatic steato... OMIM:277900
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Postaxial polydactyly... OMIM:614424
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Anemia ORPHA:75563
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity OMIM:609311
Meckel Syndrome, Type 10
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... OMIM:614175
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Cousin Syndrome
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... OMIM:260660
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Abnormal autonomic nervous system physiology, Hyperventilation OMIM:617903
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... OMIM:300244
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea OMIM:619797
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia, Microcephaly OMIM:616910
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... OMIM:620282
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... OMIM:619751
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Optic atrophy, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia OMIM:618253
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity ORPHA:101082
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Spina bifida ORPHA:2345
Diabetic Embryopathy
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Aplasi... ORPHA:1926
Bartsocas-Papas Syndrome 2
Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand OMIM:619339
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt... ORPHA:79477
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Short foot, Agenesis of cor... ORPHA:264200
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... OMIM:617102
Joubert Syndrome 7
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:611560
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:600882
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Congenital Disorder Of Glycosylation, Type Ij
Apnea, Respiratory insufficiency, Hypsarrhythmia OMIM:608093
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Microcephaly, Aqueductal stenosis, Humeroradial synostos... OMIM:251230
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Porencephalic cyst, Cerebral atrophy, Hand polydactyly, Fo... OMIM:258860
Cerebrocostomandibular Syndrome
Cerebral calcification, Hydranencephaly, Spina bifida, Microcephaly, Myelomeningocele, Porencepha... ORPHA:1393
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Apnea OMIM:256030
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus, Cerebral calcification, Microcephaly ORPHA:858
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... ORPHA:88630
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Trisomy 18
Camptodactyly of finger, Spina bifida, Microcephaly, Postaxial hand polydactyly, Anencephaly, Apl... ORPHA:3380
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyperammonemia, Decreased seru... OMIM:617093
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity OMIM:614932
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane... ORPHA:63259
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand ORPHA:2547
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Hydrocephalus, Hand polydactyly, C... ORPHA:60040
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Microcephaly OMIM:610756
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia ORPHA:75234
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia OMIM:261750
Bresek Syndrome
Optic nerve hypoplasia, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, Microphthalmia ORPHA:85284
Hyperekplexia 3
Respiratory arrest, Apnea OMIM:614618
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy ORPHA:79292
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius, Hip dis... ORPHA:3412
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Microphthalmia, ... OMIM:614833
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... ORPHA:1263
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529799
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Ulnar deviation of finger, Mitral... ORPHA:1101
Rett Syndrome
EEG abnormality, Apnea, Intermittent hyperventilation OMIM:312750
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... OMIM:617056
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Elevated circulating creatine kinase concentration, Abscess, Glomerulonephri... ORPHA:36234
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Neu-Laxova Syndrome 1
Micromelia, Calcaneovalgus deformity, Agenesis of corpus callosum, Dandy-Walker malformation, Fin... OMIM:256520
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Charlie M Syndrome
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly ORPHA:1406
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Relative macrocephaly, Polydactyly, Upper limb asymmetry ORPHA:231140
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Tibia... ORPHA:363417
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Postaxial polydactyly, Microcephaly, Preaxial polydactyly, Bilateral talipes equ... OMIM:618142
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syndactyly, Syringomyelia, Cerebral cortical atrophy, Congenital bilateral hip dislocation ORPHA:404451
20P13 Microdeletion Syndrome
Finger syndactyly, Microcephaly, Polydactyly, Macrocephaly, Clinodactyly, Brachydactyly ORPHA:313781
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... ORPHA:2251
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation OMIM:618042
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity OMIM:620068
Temtamy Syndrome
Aortic regurgitation, Hip dislocation, Thick corpus callosum, Short 2nd toe, Talipes equinovarus,... OMIM:218340
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hyperventilation OMIM:229700
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hypospadias, Increased mean platelet volume, Abnormality of the pancreas, Splenomeg... OMIM:222470
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... OMIM:602390
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Cerebrooculofacioskeletal Syndrome 1
Diffuse cerebral atrophy, Rocker bottom foot, Coxa valga, Microcephaly, Basal ganglia calcificati... OMIM:214150
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, Microvesicular h... OMIM:617156
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity OMIM:615284
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatiti... ORPHA:79312
Bardet-Biedl Syndrome 19
Mesoaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polydactyly, Hypoplasia of the ... OMIM:615996
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials ORPHA:85446
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity OMIM:605285
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea, EEG with generalized slow activity OMIM:300055
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity OMIM:605588
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Ring Chromosome 21 Syndrome
Syndactyly, Microcephaly, Small hand, Narrow palm, Holoprosencephaly, Clinodactyly ORPHA:1445
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Focal Dermal Hypoplasia
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyl... OMIM:305600
Holoprosencephaly
Encephalocele, Anophthalmia, Microcephaly, Hydrocephalus, Spinal cord tumor, Aplasia/Hypoplasia o... ORPHA:2162
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Decreased distal sensory nerve action potential OMIM:618400
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia ORPHA:195
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Hypoadrenocorticism, Familial
Apnea OMIM:240200
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Respiratory insufficiency OMIM:618886
Sandestig-Stefanova Syndrome
Rocker bottom foot, Primary microcephaly, Hypoplasia of the corpus callosum, Camptodactyly, Micro... OMIM:618804
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Single transverse palmar crease, Finger clinodactyly, Absent distal... ORPHA:1692
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum ORPHA:99742
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Aganglionic megacolon, Hypoxemia, A... OMIM:209880
3P25.3 Microdeletion Syndrome
Cerebral white matter atrophy, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapere... ORPHA:435638
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal segmental glomer... OMIM:254900
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... OMIM:617926
Narcolepsy 1
Narcolepsy OMIM:161400
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Secondary microcephaly, Cerebellar hypoplasia OMIM:613730
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... OMIM:300853
Krabbe Disease
Decreased nerve conduction velocity, EEG abnormality, Optic atrophy OMIM:245200
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of t... ORPHA:370959
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Microcephaly, Aniridia, Biparietal narrowing, Macrocephaly, Camptodac... ORPHA:251038
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Primary Sclerosing Cholangitis
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Renal insufficiency, Portal hyp... ORPHA:171
Rhombencephalosynapsis
Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Hydrocephalus, Polydacty... ORPHA:59315
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... ORPHA:2756
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia ORPHA:67
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Tracheomalacia, Decreased motor nerve conduction velocity, Respiratory insufficiency OMIM:615490
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity OMIM:249900
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Martsolf Syndrome 1
Short metacarpal, Cardiac arrest, Microcephaly, Metatarsus adductus, Slender ulna, Short toe, Ost... OMIM:212720
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia ORPHA:1046
Craniofrontonasal Dysplasia
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... ORPHA:1520
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, De... OMIM:619026
Monosomy 18P
Microcephaly, Hypertension, Holoprosencephaly, Microphthalmia, Brachydactyly ORPHA:1598
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Cerebral cortical atrophy, Camptodactyly of finger ORPHA:48431
Warburg Micro Syndrome 2
Overlapping toe, Microcephaly, Secondary microcephaly, Hypoplasia of the corpus callosum, Global ... OMIM:614225
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Absent radius, Aplasia of ... ORPHA:1352
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly OMIM:600151
Hogue-Janssen Syndrome 2
Broad hallux, Postaxial polydactyly, Microcephaly, Hydrocephalus, Hip dysplasia, Hypoplasia of th... OMIM:616362
Illum Syndrome
Apnea OMIM:208155
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Diffuse cerebral atrophy, Bilateral microphthalmos, Microcephaly ORPHA:77299
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Tricuspid regurgitation, Abnormality of the palmar creases, Secondary microcephaly OMIM:618652
Limb Body Wall Complex
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... ORPHA:2369
Holt-Oram Syndrome
Finger syndactyly, Paroxysmal atrial fibrillation, Down-sloping shoulders, First degree atriovent... ORPHA:392
Infantile Neuroaxonal Dystrophy
Optic atrophy, Apneic episodes in infancy, Abnormal autonomic nervous system physiology, Aspirati... ORPHA:35069
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Fatal Familial Insomnia
Apnea, Abnormal autonomic nervous system physiology OMIM:600072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity OMIM:618138
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Elevat... OMIM:619644
Frontorhiny
Encephalocele, Pericallosal lipoma, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus cal... ORPHA:391474
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Jau... ORPHA:186
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial agenesis of the cor... OMIM:614643
Baraitser-Winter Syndrome 2
Secondary microcephaly, Lissencephaly, Microphthalmia, Pachygyria, Agenesis of corpus callosum OMIM:614583
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Sirenomelia
Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia ORPHA:3169
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity OMIM:607734
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Postaxial hand po... OMIM:610829
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Ulnar bowing, Shorte... OMIM:619135
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Howell-Jolly bo... ORPHA:85443
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Microcephaly, Triphalangeal thumb, Sh... ORPHA:2994
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Thyroid lymphangiectasia, Ectopic kidney, Pulmonary lymphangiectasi... OMIM:235510
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology, Microcephaly ORPHA:290
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... ORPHA:93258
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial... OMIM:619879
48,Xxyy Syndrome
Asthma, Apnea ORPHA:10
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Mohr Syndrome
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Porencephalic cyst, Flared met... OMIM:252100
Pontocerebellar Hypoplasia Type 2
Apnea ORPHA:2524
Gracile Bone Dysplasia
Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Brachydactyly OMIM:602361
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... ORPHA:85167
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... OMIM:617914
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity OMIM:159550
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... OMIM:609945
Presynaptic Congenital Myasthenic Syndromes
EEG with polyspike wave complexes, Sudden episodic apnea, Intermittent episodes of respiratory in... ORPHA:98914
Congenital Myasthenic Syndrome
EEG with polyspike wave complexes, Sudden episodic apnea, Intermittent episodes of respiratory in... ORPHA:590
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Overlapping toe, Single transverse palmar crease, Tapered finger, Microcephaly, Sh... OMIM:619148
Fanconi Anemia, Complementation Group S
Microphthalmia, Clinodactyly, Proximal placement of thumb, Microcephaly OMIM:617883
Weaver Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Large hands, Talipes equinovarus, Macroce... ORPHA:3447
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Broad hallux, Single transverse palmar crease, Microcephaly, Hypoplasia of the corpus callosum, M... OMIM:614105
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb ORPHA:1825
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Microcephaly, Short first metatarsal, Short 5th toe, Prominent fingerti... OMIM:613684
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:603472
Pseudotrisomy 13 Syndrome
Encephalocele, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, 2-3 toe syndactyly, Posta... OMIM:264480
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea, Facial palsy OMIM:314580
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Broad proximal phalanges of the hand, Bilateral microphthalmos, Short foo... OMIM:607597
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Arachnodactyly, Postaxial polydactyly, Tapered finger, Microcephaly, Genu valgum, Clinodactyly of... OMIM:619721
Hallermann-Streiff Syndrome
Abnormality of the hand, Microcephaly, Spina bifida, Metaphyseal widening, Telangiectasia, Slende... OMIM:234100
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Clinodactyly, Arachnodactyly, Microcephaly OMIM:619092
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608629
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand OMIM:603543
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Microcephaly, Hydrocephalus, Short foot, Hand polydactyly, ... ORPHA:250989
Hypophosphatasia, Infantile
Death in infancy, Stillbirth, Apnea OMIM:241500
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity OMIM:607831
Myotonia Fluctuans
Stridor, Apnea ORPHA:99734
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Osteoporosis-Pseudoglioma Syndrome
Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,... ORPHA:2788
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Hepatic fibrosis... OMIM:212065
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Campomelic Dysplasia
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... OMIM:114290
Microphthalmia, Syndromic 2
Anophthalmia, Broad hallux, Sandal gap, Microcephaly, 2-3 toe cutaneous syndactyly, Phthisis bulb... OMIM:300166
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency OMIM:614462
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Respiratory insufficiency, Facial diplegia, Respirator... OMIM:618186
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Opti... OMIM:607323
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Global brain atrophy, Microcephaly OMIM:308350
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-reactive protein ... ORPHA:829
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity OMIM:180800
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Increased total bilirubin ORPHA:90037
2Q31.1 Microdeletion Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... ORPHA:251014
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... OMIM:605282
Fanconi Anemia
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Spina bif... ORPHA:84
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Motor... ORPHA:99953
Cartilage-Hair Hypoplasia
Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Rhizomelia, Car... ORPHA:175
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Coach Syndrome 2
Apneic episodes in infancy OMIM:619111
Neu-Laxova Syndrome
Cerebral calcification, Absent septum pellucidum, Micromelia, Abnormal cortical gyration, Microce... ORPHA:2671
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Microscopic hematuria, Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease,... ORPHA:567546
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea... OMIM:607932
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Relative macrocephaly, Macrocephaly, Clinodactyly of the 5th finger, Microphthalmia, Cavum septum... OMIM:617306
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Decreased HDL cholesterol concentration, Cardiomegaly, Acanthocyto... ORPHA:14
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials ORPHA:99950
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Aspiration, Decreased nerve conduction velocity OMIM:606070
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Facial diplegia, Reduced vital capacity ORPHA:329478
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Heart And Brain Malformation Syndrome
Cerebellar vermis hypoplasia, Camptodactyly of finger, Microcephaly, Cerebral atrophy, Hypoplasia... OMIM:616920
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia, Leukopenia, Nephroti... ORPHA:505248
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Coxa valga, Abnormality of the elbow, Flattened epiphysis, Flat acetabular roof, Hemiatrophy of u... ORPHA:163649
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Spina bifida, Preaxial hand polydactyly, Abnormal hip... ORPHA:261318
Stevenson-Carey Syndrome
Hip dysplasia, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Camptodactyly, Microphth... OMIM:611961
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly OMIM:619318
Propionic Acidemia
Tachypnea, Apnea OMIM:606054
Filippi Syndrome
Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cutaneous syndactyly, Finger c... OMIM:272440
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... OMIM:217085
Joubert Syndrome 37
Microphthalmia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Postaxial polyda... OMIM:619185
Ring Chromosome 10 Syndrome
Microphthalmia, Sandal gap, Tapered finger ORPHA:1438
Oculofaciocardiodental Syndrome
Short thumb, Broad palm, 2-3 toe syndactyly, Genu valgum, Hammertoe, Flexion contracture of the 2... ORPHA:2712
Joubert Syndrome
Aganglionic megacolon, Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Pelger-Huet Anomaly
Upper limb undergrowth, Macrocephaly, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Short ... OMIM:169400
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus OMIM:601794
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Cholesteryl Ester Storage Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:278000
Orofaciodigital Syndrome Vi
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Ce... OMIM:277170
Silver-Russell Syndrome Due To A Point Mutation
Relative macrocephaly, Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, C... ORPHA:397590
Narcolepsy 7
Narcolepsy OMIM:614250
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Hypop... OMIM:236500
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity OMIM:613724
Hermansky-Pudlak Syndrome 10
EEG abnormality, Apnea OMIM:617050
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... OMIM:615994
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Cerebral calcification, Hydrocephalus, Buphthalmos, Hypoplasia of t... OMIM:616538
Aicardi Syndrome
Cerebellar vermis hypoplasia, Proximal placement of thumb, Microcephaly, Spina bifida, Partial ag... OMIM:304050
Cockayne Syndrome Type 2
Anophthalmia, Subcortical white matter calcifications ORPHA:90322
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Arrhythmia, Bilateral single transverse palmar creases, Synostosis of carpal bones ORPHA:3191
Marden-Walker Syndrome
Arachnodactyly, Microcephaly, Radioulnar synostosis, Hypoplasia of the brainstem, Talipes equinov... OMIM:248700
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... OMIM:618935
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Spina bifida occulta ORPHA:1514
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency OMIM:618222
Scheie Syndrome
Abnormal nerve conduction velocity, Rhinitis ORPHA:93474
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Microcephaly, Deviation of t... ORPHA:464738
Congenital Fibrinogen Deficiency
Microphthalmia, Clubbing of fingers, Tachycardia, Internal hemorrhage ORPHA:335
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity ORPHA:3115
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Absent septum pellucidum, Absent thumb, Microcephaly, Short thumb, Hypopl... OMIM:609053
Combined Oxidative Phosphorylation Deficiency 37
3-Methylglutaconic aciduria, Hypoalbuminemia, Bile duct proliferation, Macrovesicular hepatic ste... OMIM:618329
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Broad thumb, Brachydactyly OMIM:614526
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Spina bifida, Short toe, Hip dislocation... ORPHA:2308
Cold Agglutinin Disease
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... OMIM:615503
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration, Decreased nerve conduction velocity, Decreased amplitude of sen... OMIM:618733
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea OMIM:612949
Vocal Cord And Pharyngeal Distal Myopathy
Respiratory insufficiency due to muscle weakness, Aspiration, Decreased nerve conduction velocity ORPHA:600
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
6P22 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Hydrocephalus ORPHA:251046
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Baraitser-Winter Syndrome 1
Microcephaly, Duplication of phalanx of hallux, Lissencephaly, Microphthalmia, Aortic valve steno... OMIM:243310
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Ra... OMIM:304120
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebellar vermis hypoplasia, Overlapping toe, Cerebral atrophy, Hip dysplasia, Hypoplasia of the... OMIM:618494
Griscelli Syndrome
Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Splenomegaly,... ORPHA:381
Myoclonic-Astatic Epilepsy
Microphthalmia, Syndactyly, Microcephaly ORPHA:1942
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Relative macrocephaly, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasi... OMIM:617895
Acrofrontofacionasal Dysostosis 2
Syndactyly, Broad hallux, Microcephaly, Hand polydactyly, Broad thumb OMIM:239710
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency, Fatigable weakness of skeletal muscles OMIM:617239
Mogs-Cdg
Respiratory distress, Hypoventilation, Absent brainstem auditory responses, Apnea, Optic atrophy ORPHA:79330
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Syndactyly, Encephalocele, Optic nerve hypoplasia, Preaxial po... OMIM:603671
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity ORPHA:319514
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Postaxial polydactyly, Brachydactyly OMIM:615633
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Op... ORPHA:1187
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... OMIM:617866
Oculopalatocerebral Syndrome
Microphthalmia, Microcephaly OMIM:257910
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Tethered cord, Microcephaly, Spinal dysraphism, Aortic valve stenosis, Mitral stenosis OMIM:617660
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... OMIM:603903
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle OMIM:173800
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Tachypnea, Apnea ORPHA:2318
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... OMIM:605432
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa... ORPHA:3103
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Apnea, Death in childhood OMIM:214110
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Triploidy
Finger syndactyly, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callosum, Holopro... ORPHA:3376
Adams-Oliver Syndrome 6
Syndactyly, Tricuspid regurgitation, Portal hypertension, Foot oligodactyly, Brachydactyly OMIM:616589
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal circulating lipid concentration, Proteinuria, Enlarged polycystic ovar... ORPHA:2298
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Apnea, Abnormal pattern of respiration ORPHA:220497
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Abnormal palmar dermatoglyphics, Heart murmur, Microcephaly ORPHA:2728
Gaucher Disease, Type Ii
Death in infancy, Apnea, Stridor, Cough, Recurrent aspiration pneumonia OMIM:230900
Cloacal Exstrophy
Spina bifida, Abnormal tibia morphology, Myelomeningocele, Absent foot, Hip dislocation, Abnormal... ORPHA:93929
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Microcephaly, Cortical dysplasia, Hypertension, Pulmonary arterial... OMIM:100300
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Sandal gap, Macrodactyly, Spinal dysraphism OMIM:612918
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:85414
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus... OMIM:206900
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Decreased nerve conduction velocity ORPHA:101097
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Ascites OMIM:618183
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... ORPHA:485421
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Chromosome 3Pter-P25 Deletion Syndrome
Overlapping toe, Postaxial polydactyly, Microcephaly, Tapered finger, Macular hypoplasia OMIM:613792
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:214400
Basel-Vanagaite-Smirin-Yosef Syndrome
Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Cerebral atrophy, Pulmonary ar... OMIM:616449
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Laurence-Moon Syndrome
Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases ORPHA:2377
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:201300
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity OMIM:270685
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Palmoplantar keratoderma OMIM:613576
Kapur-Toriello Syndrome
Single transverse palmar crease, Camptodactyly of finger, Pachygyria, Short thumb, Microphthalmia... OMIM:244300
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity OMIM:118300
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of the 5th finger, Brac... OMIM:619451
Warburg Micro Syndrome 3
Microcephaly, Secondary microcephaly, Hypoplasia of the corpus callosum, Clinodactyly of the 5th ... OMIM:614222
Oculo-Palato-Cerebral Syndrome
Microcephaly, Small hand, Aplasia/Hypoplasia of the corpus callosum, Short foot, Microphthalmia, ... ORPHA:2714
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Microcephaly, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Cerebellar hypopl... OMIM:612530
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice, Elev... ORPHA:91547
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:616688
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Multiple Benign Circumferential Skin Creases On Limbs
Microcephaly, Congestive heart failure, Upper limb asymmetry, Umbilical hernia, Microphthalmia ORPHA:2505
Refsum Disease
Short metacarpal, Heart block, Cardiomyopathy, Hammertoe, Abnormal epiphysis morphology, Micropht... ORPHA:773
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Microcephaly, Holoprosencephaly, Hypoplasia o... ORPHA:1587
Fraser Syndrome 1
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Abnormal cortical gyration, Microce... OMIM:219000
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... OMIM:614091
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Relative macrocephaly, Encephalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Pre... OMIM:616300
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia OMIM:235555
Marburg Hemorrhagic Fever
Reticulocytosis, Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperam... ORPHA:99826
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap... OMIM:609638
Nance-Horan Syndrome
Microphthalmia, Short metacarpal ORPHA:627
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Optic atrophy, Apnea OMIM:617301
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Microcephaly ORPHA:544254
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Desbuquois Dysplasia 2
Relative macrocephaly, Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, M... OMIM:615777
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ... ORPHA:1515
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... OMIM:618426
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Mic... OMIM:272950
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Abnormal EKG, Hydrocephalus, Telangiectasia, Polydactyly, Macrocephaly, ... ORPHA:93400
Distal Arthrogryposis Type 1
Camptodactyly of finger, Rocker bottom foot, Ulnar deviation of finger, Abnormal hip bone morphol... ORPHA:1146
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity OMIM:118220
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hypertrophic cardiomyopathy, Single transverse palmar crease OMIM:619053
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Radioulnar synosto... ORPHA:1788
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis... OMIM:212780
Microphthalmia, Lenz Type
Finger syndactyly, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia of the corpus callos... ORPHA:568
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Decreased serum iron, Decreased serum zinc, Hypoalbu... ORPHA:89842
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia, Spina bifida, Hemiatrophy ORPHA:2874
Ritscher-Schinzel Syndrome 2
Relative macrocephaly, Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinod... OMIM:300963
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... OMIM:616482
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity OMIM:614436
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Intrah... OMIM:607765
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly OMIM:601163
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... ORPHA:206436
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity ORPHA:1933
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... OMIM:608836
Alg12-Cdg
Hyponatremia, Hypospadias, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Micropenis, T... ORPHA:79324
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Decreased nerve conduction velocity, Optic atrophy OMIM:612674
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Apnea, Abnormal pattern of respiration ORPHA:220493
White Forelock With Malformations
Clinodactyly of the 5th finger, Finger syndactyly, Spina bifida occulta ORPHA:2475
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Joint contracture of the 5th f... OMIM:620098
Stromme Syndrome
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Preaxial polyd... OMIM:243605
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly OMIM:618727
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude, Bronchiectasis OMIM:620080
9Q21.13 Microdeletion Syndrome
Hip dysplasia, Syringomyelia, Polydactyly, Aplasia/Hypoplasia of the corpus callosum ORPHA:531151
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... OMIM:210250
Pfeiffer Syndrome
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... OMIM:101600
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Cerebral calcification, Toe syndactyly, Arachnodactyly, Microcephaly, Short palm ORPHA:73246
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity OMIM:604563
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 2nd finger, Sandal gap, Broad hallux, Microcephaly, 2-3 toe syndactyly, Cutaneous syndactyl... OMIM:600987
Alkuraya-Kucinskas Syndrome
Overlapping toe, Hydrocephalus, Cutaneous syndactyly, Macrocephaly, Aplasia/Hypoplasia of the cor... OMIM:617822
Primary Lateral Sclerosis, Juvenile
Decreased compound muscle action potential amplitude OMIM:606353
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Dilated cardiomyopathy, ... OMIM:253800
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy OMIM:256600
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microcephaly, Small hand, Short foot, Hypoplasia of the corpus callosum, Short palm, Microphthalmia OMIM:241410
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... OMIM:613027
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microcephaly, Vitreous hemorrhage, Retinal neovascularization, Microphtha... ORPHA:891
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy, Optic atrophy ORPHA:3078
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Single transverse palmar crease, Microcephaly, Tapered finger,... ORPHA:435938
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Microcephaly, Partial absence of cerebellar vermis, Hydrocephalus, Buphthalmos, Hy... OMIM:613150
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Apnea, Respiratory insufficiency, Hypsarrhythmia ORPHA:521426
Suleiman-El-Hattab Syndrome
Single transverse palmar crease, Microcephaly, Polydactyly, Clinodactyly, Brachydactyly OMIM:618950
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... OMIM:619381
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal phalanx of fi... ORPHA:404440
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Chylous ascites, Hypoa... ORPHA:90363
Blepharocheilodontic Syndrome 1
Neural tube defect, Clinodactyly, Cutaneous syndactyly OMIM:119580
Schizophrenia 1
Syndactyly, Short proximal phalanx of the 4th toe OMIM:181510
Biotinidase Deficiency
Optic atrophy, Tachypnea, Apnea OMIM:253260
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:617729
Sialidosis Type 1
Decreased nerve conduction velocity, EEG abnormality ORPHA:812
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity OMIM:238970
3-Hydroxy-3-Methylglutaric Aciduria
EEG abnormality, Tachypnea, Apnea, Hypsarrhythmia ORPHA:20
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Microcephaly, Narrow palm, Slender... ORPHA:193
Xfe Progeroid Syndrome
Renal insufficiency, Ascites, Hypoalbuminemia, Proteinuria OMIM:610965
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Neonatal death OMIM:608013
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Short hallux, Cerebellar hypoplasia, Abnormal metacarpal morph... ORPHA:3224
Orofaciodigital Syndrome Xvi
Apnea OMIM:617563
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... ORPHA:158048
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Brachydactyly, Microcephaly, Small hand, Short palm, Clinodactyly of the 5th f... ORPHA:1786
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea ORPHA:79644
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:162400
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Abnormality of the humerus... ORPHA:3186
Aarskog-Scott Syndrome
Finger syndactyly, Single transverse palmar crease, Camptodactyly of finger, Congestive heart fai... ORPHA:915
Biotinidase Deficiency
Respiratory distress, Apnea, Optic neuropathy, Optic atrophy, Hyperventilation ORPHA:79241
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy OMIM:615419
Acrootoocular Syndrome
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... ORPHA:2980
Hereditary Sensory And Autonomic Neuropathy Type 1
Abnormality of the autonomic nervous system, Decreased amplitude of sensory action potentials, Cough ORPHA:36386
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Hypoplasia of the brainstem, Hypoplasia of ... OMIM:615636
Joubert Syndrome 27
Polydactyly OMIM:617120
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos, Microcephaly ORPHA:2399
Methylcobalamin Deficiency Type Cble
Syndactyly, Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Hypoplasia of... ORPHA:2169
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Arachnodactyly, Spina bifida, Microcephaly, Hydrocephalus, Meningoce... ORPHA:567
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly OMIM:615761
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Syndactyly, Clinodactyly, Cerebellar hypoplasia, Microcephaly OMIM:618087
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Hypoplastic iliac wing, Prominent fingertip pads, Clinodactyly o... OMIM:180849
Mend Syndrome
Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Hand polydactyly,... ORPHA:401973
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Anemia OMIM:618107
Pontocerebellar Hypoplasia, Type 7
Optic atrophy, Apnea OMIM:614969
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity OMIM:619851
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
3Q29 Microdeletion Syndrome
Microcephaly, Tapered finger, Pulmonary arterial hypertension, Macrocephaly, Clinodactyly of the ... ORPHA:65286
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... OMIM:611881
Cockayne Syndrome Type 1
Basal ganglia calcification, Anophthalmia, Hypertension ORPHA:90321
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Hypertensio... OMIM:162200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity OMIM:118200
Bilateral Perisylvian Polymicrogyria
EEG with polyspike wave complexes, EEG with parietal focal spikes, EEG with frontal focal spikes,... ORPHA:98889
Fraser Syndrome
Encephalocele, Finger syndactyly, Anophthalmia, Toe syndactyly, Microcephaly, Myelomeningocele, U... ORPHA:2052
Joubert Syndrome 2
Encephalocele, Agenesis of cerebellar vermis, Postaxial hand polydactyly, Hydrocephalus, Postaxia... OMIM:608091
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Tethered cord, Spina bifida, Absent radius, Short thumb, Hyp... OMIM:192350
Pagod Syndrome
Encephalocele, Spina bifida, Sudden cardiac death, Microcephaly, Meningocele, Arrhythmia ORPHA:991
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Central apnea OMIM:615157
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno... ORPHA:39041
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:145900
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Eem Syndrome
Finger syndactyly, Ectrodactyly ORPHA:1897
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Decreased compound muscle action potential amplitude OMIM:618279
Combined Oxidative Phosphorylation Defect Type 39
Decreased nerve conduction velocity, EEG abnormality, Optic disc pallor, Hypsarrhythmia ORPHA:565624
Nance-Horan Syndrome
Microphthalmia, Short phalanx of finger, Broad finger OMIM:302350
Skin Creases, Congenital Symmetric Circumferential, 1
Microcephaly, Long fingers, Hypoplasia of the corpus callosum, Microphthalmia, Dandy-Walker malfo... OMIM:156610
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Oculodentodigital Dysplasia, Autosomal Recessive
Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, 3-4 finger cut... OMIM:257850
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased... OMIM:235200
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp... ORPHA:3429
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, EEG abnormality, Abnormal autonomic nervous system physiology, Aspir... ORPHA:2131
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor... ORPHA:3472
Isolated Osteopoikilosis
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... ORPHA:166119
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Abnormality of the hand, Bilateral microphthalmos, Camptodactyly, Umbilical hernia, C... ORPHA:369891
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Agenesis of cerebellar vermis, Agenesis of corpus callosum ORPHA:228390
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... OMIM:302960
Tenorio Syndrome
Recurrent pneumonia, Apnea OMIM:616260
Encephalocraniocutaneous Lipomatosis
Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Hypoplasia of the iris, Cerebellar hypopla... OMIM:613001
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Microcephaly, Unilateral microphthalmos, Macrocephaly, Polymicrogyria, Adducted thumb OMIM:618874
Oculodentodigital Dysplasia
Microcephaly, Basal ganglia calcification, 4-5 finger syndactyly, Hip dislocation, Abnormal cereb... OMIM:164200
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... ORPHA:93259
Tarp Syndrome
Cerebellar vermis hypoplasia, Single transverse palmar crease, Rocker bottom foot, Postaxial poly... OMIM:311900
Poliomyelitis
Fatigable weakness of respiratory muscles, Respiratory failure requiring assisted ventilation, Re... ORPHA:2912
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Microcephaly,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Microcephaly,... ORPHA:363958
Galloway-Mowat Syndrome 1
Microcephaly, Pachygyria, Cerebral atrophy, Hypoplasia of the iris, Hypoplasia of the brainstem, ... OMIM:251300
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Otopalatodigital Syndrome Type 2
Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger... ORPHA:90652
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... ORPHA:710
Fanconi Anemia, Complementation Group F
Absent thumb, Microcephaly, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microph... OMIM:603467
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Coxa vara, Lobar h... OMIM:614701
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Aortic regurgitation, Sandal gap, Aplasia/Hypoplasia of the cerebe... ORPHA:254346
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, Hypoplasia of the olfactory bulb ORPHA:2250
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology, Cough OMIM:614575
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl... ORPHA:2256
Incontinentia Pigmenti
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal hand morphology,... ORPHA:464
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity ORPHA:397744
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Microcephaly, Abnormality of the elbow, Hip dislocation, Short middle phalanx ... ORPHA:1005
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials ORPHA:98856
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Tricuspid regurgitation, Absent septum pellucidum, Microcephaly, Hydrocephalus, Dil... ORPHA:2556
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity OMIM:614895
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... OMIM:146510
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Microcephaly, Small hand, Mac... ORPHA:1001
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Central Y-shaped metacarpal, Pre... ORPHA:2754
Short Stature With Microcephaly And Distinctive Facies
Syndactyly, Short digit, Proximal placement of thumb, Microcephaly, Talipes equinovarus, Hypoplas... OMIM:615789
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Microcephaly, Absent thumb, Aplasia/Hypoplasia of the distal p... ORPHA:1234
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Stridor, Aspiration, Neonatal respiratory distress, Apnea OMIM:614653
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, Aplasia/Hypoplasia of the... ORPHA:2166
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Tapered finger, Microcephaly, Microphthalmia, Broad thumb, Bilateral sin... ORPHA:1236
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Apnea OMIM:618056
Silver-Russell Syndrome 3
Clinodactyly of the 5th finger, Syndactyly, Small hand, Relative macrocephaly OMIM:616489
Charge Syndrome
Anophthalmia, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aqueductal stenosis, Abnormal t... ORPHA:138
Sacral Defect With Anterior Meningocele
Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bi... OMIM:600145
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly OMIM:149000
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Oliver Syndrome
Camptodactyly of finger, Microcephaly, Short toe, Postaxial hand polydactyly, Elbow flexion contr... ORPHA:2920
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, EEG with focal sharp waves, EEG abnormality, EEG with series of focal spikes, EEG ... ORPHA:522077
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos, Pulmonic stenosis OMIM:601186
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Cardiorespiratory arrest OMIM:608643
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux OMIM:263630
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... OMIM:613179
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration OMIM:614204
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Malformation of the hepatic ductal plate,... OMIM:208540
Mend Syndrome
Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Polydactyly, Macu... OMIM:300960
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... OMIM:617099
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Pachygyria, Hypoplasia of the corpus callosum, Microcephaly ORPHA:66629
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Simplified gyral pattern, Microcephaly OMIM:152950
Ritscher-Schinzel Syndrome 1
Syndactyly, Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker malformation OMIM:220210
Joubert Syndrome 39
Occipital encephalocele, Cerebellar vermis hypoplasia, Joint contracture of the 5th finger, Posta... OMIM:619562
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Abnormal m... ORPHA:284160
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Tachypnea, Abnormal optic disc morphology, Recurrent aspiration pneumonia, Chronic lung di... ORPHA:397715
Necrotizing Enterocolitis
Apnea ORPHA:391673
Warburg Micro Syndrome 4
Perisylvian polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus callosum, Microphtha... OMIM:615663
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Apnea, Respiratory insufficiency OMIM:617527
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Hepatomegaly, Hypospadias, Unilateral renal agenesis, Splenom... OMIM:270400
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Optic atrophy, Facial palsy OMIM:608804
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Joubert Syndrome With Hepatic Defect
Optic disc coloboma, Apnea, Abnormal pattern of respiration ORPHA:1454
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea OMIM:619580
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Camptodactyly of finger, Microcephaly, Meningocele, Macrocephaly, Umbilical he... ORPHA:2311
Stuve-Wiedemann Syndrome 1
Death in infancy, Apnea, Respiratory insufficiency, Abnormal autonomic nervous system physiology,... OMIM:601559
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hydrocephalus... OMIM:616546
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Micromelia, Brachydactyly ORPHA:2145
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum ORPHA:1791
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proxim... ORPHA:96334
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Portal hypertension, Cholestasis, Bile duct proliferation, Hypocalcemia, Cirrhosis,... OMIM:613658
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Decreased distal sensory nerve action potential, Intercostal muscle... OMIM:606071
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Men... OMIM:236670
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal... OMIM:232220
Waardenburg Syndrome, Type 1
Myelomeningocele, Hypoplastic iris stroma, Spina bifida OMIM:193500
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic... OMIM:300952
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Neonatal Lupus Erythematosus
Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Ch... ORPHA:398124
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Postaxial polydactyly, Microcephaly, Hydrocephalus, Cerebral atrophy,... OMIM:614576
Mucopolysaccharidosis Type 1
Optic atrophy, Sinusitis, Apnea, Cough ORPHA:579
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Holoprosenceph... OMIM:184705
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Proximal placement of thumb, Microcephaly, Cardiomyopathy, Cerebellar hypoplasia, Sho... OMIM:217980
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, EEG with burst suppression, Pleural effusion, Apnea OMIM:261740
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Microcephaly, Clinodactyly of the 5th finger, Clinodactyly... ORPHA:3255
Atelis Syndrome 2
Single transverse palmar crease, Microcephaly, Supravalvar pulmonary stenosis, Vitreous hemorrhag... OMIM:620185
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Fanconi Anemia, Complementation Group E
Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia, Complete duplication of t... OMIM:600901
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Hep... OMIM:618641
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Hypoplasia of the corpus callosum, Camptodactyly, Microphthalmia, A... OMIM:614230
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Hip dysplasia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum ORPHA:494344
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen... OMIM:612852
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly OMIM:226700
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity OMIM:603516
Pancreatic And Cerebellar Agenesis
Death in infancy, Apnea, Optic nerve hypoplasia OMIM:609069
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Camptodactyly OMIM:616006
Kbg Syndrome
Finger clinodactyly, Microcephaly, Single transverse palmar crease, Cutaneous syndactyly ORPHA:2332
Orofaciodigital Syndrome I
Syndactyly, Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydro... OMIM:311200
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Biparietal narrowing, Abnormal hip bone morphology, S... ORPHA:1323
Lethal Acantholytic Erosive Disorder
4-5 finger syndactyly, 2-3 finger syndactyly, Impaired myocardial contractility, Hypovolemic shoc... ORPHA:158687
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Hydrocephalus, Aplasia/Hypoplasia involving the pelvis, Microphthalmia, Ag... ORPHA:3301
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abno... ORPHA:468631
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of finger, Postaxial... OMIM:249000
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Episodic respiratory distress, Optic atrophy, Hyperventilation ORPHA:255210
Fanconi Anemia, Complementation Group D2
Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb... OMIM:227646
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Optic atrophy, Apnea ORPHA:395
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Microcepha... ORPHA:783
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Vitreoretinochoroidopathy
Microphthalmia, Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Fetal Alcohol Syndrome
Microphthalmia, Biparietal narrowing, Microcephaly ORPHA:1915
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp... OMIM:615895
Charge Syndrome
Hypoplasia of the ulna, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Mi... OMIM:214800
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Cerebellar vermis hypoplasia, Polymicrogyria OMIM:612379
Apert Syndrome
Syndactyly, Finger syndactyly, Absent septum pellucidum, Limited elbow movement, Megalencephaly, ... OMIM:101200
Hurler Syndrome
Abnormal nerve conduction velocity, Death in infancy, Rhinitis ORPHA:93473
Miller-Dieker Lissencephaly Syndrome
Single transverse palmar crease, Microcephaly, Pachygyria, Deep palmar crease, Polydactyly, Lisse... OMIM:247200
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Unilateral Polymicrogyria
Giant somatosensory evoked potentials, Apnea, Epistaxis ORPHA:268943
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Optic disc pallor, Apnea, Optic neuropathy, Respiratory insufficiency, Respirat... OMIM:252010
Optic Atrophy 11
Optic nerve hypoplasia, Optic atrophy, EEG with focal sharp waves, Facial diplegia, Decreased sen... OMIM:617302
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot... ORPHA:2008
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... OMIM:249100
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Fanconi Anemia, Complementation Group A
Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia, Complete duplication of t... OMIM:227650
Glass Syndrome
Apnea OMIM:612313
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... OMIM:308050
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Foot polydactyly, Short palm, Microphthalmia, Agenesis of corpus callosum ORPHA:268249
Bohring-Opitz Syndrome
Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/rhizomelic l... OMIM:605039
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Anemia ORPHA:79396
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Cutaneous syndactyly, Bra... OMIM:601005
Cardioacrofacial Dysplasia 1
Limb undergrowth, Postaxial polydactyly, Genu valgum OMIM:619142
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri... OMIM:239200
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neut... ORPHA:293173
Marshall-Smith Syndrome
Apnea, Optic nerve hypoplasia, Stridor, Aspiration pneumonia, Death in childhood, Pulmonary arter... OMIM:602535
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Syndactyly OMIM:619736
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Pn... ORPHA:79138
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly OMIM:234050
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... ORPHA:90033
Micro Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Lissenceph... ORPHA:2510
Joubert Syndrome 1
Central apnea, Optic disc pallor, Episodic tachypnea, Optic disc coloboma, Neonatal breathing dys... OMIM:213300
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Pericallosal lipoma, Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/apl... ORPHA:306542
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:256840
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... ORPHA:30
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia, Telangiectasia, Corneal neovascularization, Microcephaly OMIM:278730
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Broad palm,... OMIM:305400
Monosomy 9Q22.3
Palmar pits, Hydrocephalus, Umbilical hernia, Polydactyly, Calcification of falx cerebri, Macroce... ORPHA:77301
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Spina bifida, Tapered finger, Partial agenesis of the corpus callosum, Thin corpus... OMIM:619480
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction ORPHA:168563
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Conjugated hyperb... ORPHA:567983
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Herpes Simplex Virus Encephalitis
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1930
Myhre Syndrome
Overlapping toe, Microcephaly, Short toe, 2-3 toe syndactyly, Macrocephaly, Cone-shaped epiphysis... OMIM:139210
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni... OMIM:214500
Genitopatellar Syndrome
Apnea ORPHA:85201
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity OMIM:302800
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Single transverse palmar crease, Microcephaly, Junctional ectopic tachy... OMIM:309801
Juvenile Polyposis Of Infancy
Refractory anemia, Hypoalbuminemia, Anemia ORPHA:79076
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly OMIM:617681
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Decreased sensory ne... OMIM:164400
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Mcleod Syndrome
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, R... OMIM:300842
Adams-Oliver Syndrome 5
Syndactyly, Pulmonary arterial hypertension, Pulmonic stenosis, Umbilical hernia, Brachydactyly OMIM:616028
Crane-Heise Syndrome
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Aplasia/Hypoplasia of... ORPHA:1512
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Macrocepha... OMIM:614099
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Hypertrophic cardiomyopathy, M... ORPHA:1517
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Macroce... OMIM:601812
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Microcephaly ORPHA:2526
Autosomal Recessive Spastic Paraplegia Type 77
Sudden episodic apnea ORPHA:466722
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Hematuria... ORPHA:77259
Silver-Russell Syndrome 1
Clinodactyly of the 5th finger, Syndactyly, Short middle phalanx of the 5th finger, Short distal ... OMIM:180860
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity OMIM:604168
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:616192
Autoimmune Hepatitis
Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis... ORPHA:2137
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1302
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Abnormal cortical gyration, Preaxial hand... ORPHA:2211
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Spina bifida occulta, Small hand, Short 4th metacarpal ORPHA:1787
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, Intrahepatic bile duct dilatati... OMIM:619534
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity ORPHA:88628
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia ORPHA:101085
Kenny-Caffey Syndrome, Type 2
Basal ganglia calcification, Macrocephaly, Microphthalmia, Thickened cortex of long bones, Abnorm... OMIM:127000
Lenz-Majewski Hyperostotic Dwarfism
Relative macrocephaly, Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of... OMIM:151050
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Microcephaly, Toe clinodactyly, Cl... ORPHA:217346
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Bardet-Biedl Syndrome 1
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... OMIM:209900
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity ORPHA:298
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... OMIM:276700
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Inferior cerebellar vermis hypoplasia, Overlapping toe OMIM:618571
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Overlapping toe, Long fingers, Cutaneous syndactyly, Macrocephaly, Overlapping fingers OMIM:618316
3C Syndrome
Finger syndactyly, Hydrocephalus, Hand polydactyly, Abnormal hip bone morphology, Macrocephaly, A... ORPHA:7
Fg Syndrome Type 1
Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr... ORPHA:93932
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy OMIM:601152
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Facial palsy, Hypoxemia, EEG abnormality, Decreased se... ORPHA:456312
Jacobsen Syndrome
Microcephaly, Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Macrocephaly, Clinodactyly of... OMIM:147791
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Kury-Isidor Syndrome
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino... OMIM:619762
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Holoprosencephaly, Macrocephaly, Microphthalmia, Abnormal c... ORPHA:141099
Ring Chromosome 12 Syndrome
Syndactyly, Microcephaly, Abnormal 5th finger morphology, Symphalangism of the thumb, Clinodactyly ORPHA:1439
Branchiooculofacial Syndrome
Anophthalmia, Agenesis of cerebellar vermis, Single transverse palmar crease, Proximal placement ... OMIM:113620
Adnp Syndrome
Broad hallux, Single transverse palmar crease, Sandal gap, Microcephaly, Abnormal toe morphology,... ORPHA:404448
Split Cord Malformation
Tethered cord, Cervical spina bifida, Talipes cavus equinovarus, Lipomyelomeningocele, Myelomenin... ORPHA:573278
Chromosome 13Q14 Deletion Syndrome
Overlapping toe, Single transverse palmar crease, Absent septum pellucidum, Hip dislocation, Umbi... OMIM:613884
Cerebrofacioarticular Syndrome
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Talipes equin... ORPHA:314679
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Cerebral calcification, Camptodactyly of finger, Short hallux,... ORPHA:2710
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Optic atrophy OMIM:609033
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Delayed epiphyseal oss... OMIM:210710
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal neovascularization OMIM:305390
Kapur-Toriello Syndrome
Microphthalmia, Pachygyria, Dysplastic corpus callosum, Polymicrogyria ORPHA:2328
Cri-Du-Chat Syndrome
Syndactyly, Short metacarpal, Single transverse palmar crease, Microcephaly, Metatarsus adductus,... OMIM:123450
Japanese Encephalitis
Respiratory distress, Decreased motor nerve conduction velocity, Facial palsy, EEG with burst sup... ORPHA:79139
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Optic atrophy OMIM:250100
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Microcephaly ORPHA:178303
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Cough ORPHA:90658
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... ORPHA:93260
Linear Nevus Sebaceus Syndrome
Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Biparietal... ORPHA:2612
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity OMIM:616652
Hydrolethalus Syndrome 1
Absent septum pellucidum, Abnormal cortical gyration, Preaxial hand polydactyly, Postaxial hand p... OMIM:236680
Frontonasal Dysplasia 2
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcephaly, Hypopla... OMIM:613451
Opitz-Kaveggia Syndrome
Relative macrocephaly, Syndactyly, Broad hallux, Single transverse palmar crease, Partial agenesi... OMIM:305450
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microcephaly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the ... ORPHA:364577
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Olivopontocerebellar hypoplasia, Hyd... ORPHA:457284
Poland Syndrome
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A... ORPHA:2911
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity OMIM:613640
Hyper-Igd Syndrome
Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Ren... OMIM:260920
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv... OMIM:222700
Intellectual Developmental Disorder, Autosomal Dominant 54
Apnea, Hyperventilation OMIM:617799
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Aortic regurgitation, Toe syndactyly, Arachnodactyly, Microcephaly, Hypoplasia of ... ORPHA:464306
Orofaciodigital Syndrome V
Sandal gap, Postaxial polydactyly, Microcephaly, Postaxial hand polydactyly, Postaxial foot polyd... OMIM:174300
Fanconi Anemia, Complementation Group C
Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia, Complete duplication of t... OMIM:227645
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Tricuspid regurgitation, Tethered cord, Postaxial polydactyly, Micr... OMIM:618460
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ... ORPHA:464329
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Microcephaly, Retinal hemorrhage, Hypoplasia of t... OMIM:609049
X-Linked Dominant Chondrodysplasia Punctata
Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, Talip... ORPHA:35173
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Apnea, Respiratory insufficiency, Death in infancy ORPHA:800
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Tropical Endomyocardial Fibrosis
Hepatomegaly, Eosinophilia, Cardiomegaly, Splenomegaly, Hypoalbuminemia, Ascites ORPHA:75565
Combined Oxidative Phosphorylation Deficiency 25
Hypoplasia of the pons, Syndactyly, Intraventricular hemorrhage, Cerebral atrophy OMIM:616430
Microphthalmia, Syndromic 1
Syndactyly, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Microcephaly, ... OMIM:309800
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly OMIM:614800
Grange Syndrome
Finger clinodactyly, Syndactyly, Renovascular hypertension, Brachydactyly OMIM:602531
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly ORPHA:1997
Slc39A8-Cdg
Sudden episodic apnea, Hypsarrhythmia ORPHA:468699
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity OMIM:610532
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Respiratory insufficiency due to muscle weakness, Abnormality of peripheral somatosensory evoked ... ORPHA:466768
Ohdo Syndrome, X-Linked
Ulnar deviation of the hand, Overlapping toe, Short thumb, Hip dysplasia, Microphthalmia, Long th... OMIM:300895
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... OMIM:610199
Holoprosencephaly 7
Occipital meningocele, Microcephaly, Alobar holoprosencephaly, Partial agenesis of the corpus cal... OMIM:610828
Xp21 Deletion Syndrome
Apneic episodes in infancy ORPHA:261476
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Optic nerve hypoplasia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous... OMIM:620029
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocy... OMIM:617591
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius ORPHA:246
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephroca... ORPHA:90041
Rodrigues Blindness
Microphthalmia OMIM:268320
Wolfram Syndrome
Central apnea, Optic atrophy, Abnormal autonomic nervous system physiology, Respiratory insuffici... ORPHA:3463
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Basal ganglia calcification, Microcephaly OMIM:610651
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea ORPHA:17
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity ORPHA:477817
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... ORPHA:221120
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Apnea, Facial palsy OMIM:300373
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy ORPHA:309256
Tarp Syndrome
Optic atrophy, Apnea ORPHA:2886
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Shprintzen-Goldberg Syndrome
Apnea ORPHA:2462
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia of t... ORPHA:1052
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy ORPHA:309263
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... ORPHA:309854
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy ORPHA:379
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Neph... ORPHA:29073
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Optic atrophy, Decreased amplitude of sensory action... OMIM:229300
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormal cortical gyration, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, S... OMIM:300968
Acrofrontofacionasal Dysostosis 1
Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger OMIM:201180
Hallermann-Streiff Syndrome
Microcephaly, Congestive heart failure, Small hand, Short foot, Cerebellar hypoplasia, Clinodacty... ORPHA:2108
Skin Creases, Congenital Symmetric Circumferential, 2
Tapered finger, Microcephaly, Long fingers, 2-3 toe syndactyly, Hypoplasia of the corpus callosum... OMIM:616734
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:270550
Momo Syndrome
Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Macrocephaly, Congenital ps... ORPHA:2563
Hamamy Syndrome
Long toe, Syndactyly, Prolonged QRS complex, Down-sloping shoulders, Tapered finger, Long fingers... OMIM:611174
Larsen Syndrome
Finger syndactyly, Accessory carpal bones, Abnormal epiphysis morphology, Broad distal phalanx of... ORPHA:503
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... OMIM:616084
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Polymicrogyria, Umbilical hernia OMIM:614520
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, Sp... OMIM:300972
Kinsship Syndrome
Single transverse palmar crease, Coxa valga, Microcephaly, Hip dislocation, Fibular hypoplasia, P... OMIM:619297
X Small Rings
Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,... ORPHA:96201
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Isolated Biliary Atresia
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Conjugated hyperbil... ORPHA:30391
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Absent septum pellucidum, Mic... ORPHA:87
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy ORPHA:101076
Fryns Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Agenesis of corpus callosum, Cerebral cortical at... ORPHA:2059
Bardet-Biedl Syndrome
Finger syndactyly, Postaxial hand polydactyly, Hypertension ORPHA:110
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplasia, Short lo... OMIM:617925
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anter... OMIM:616975
Constricting Bands, Congenital
Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus OMIM:217100
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Bohring-Opitz Syndrome
Optic atrophy, Apnea ORPHA:97297
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... OMIM:263650
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Orthostatic hypotension due to autonomic dysf... ORPHA:309271
Fanconi Anemia, Complementation Group L
Absent thumb, Absent radius, Hydrocephalus, Bilateral talipes equinovarus, Cerebellar hypoplasia,... OMIM:614083
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea, Abnormal autonomic nervous system physiology ORPHA:3206
Staphylococcal Necrotizing Pneumonia
Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:36238
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... OMIM:102700
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Postaxial polydactyly OMIM:219730
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... OMIM:608885
Cockayne Syndrome B
Microcephaly, Basal ganglia calcification, Ivory epiphyses of the phalanges of the hand, Cerebral... OMIM:133540
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy OMIM:614863
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:610188
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Hypoventilation, Optic atrophy, Respiratory insufficie... ORPHA:99949
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Optic nerve compression, Apnea, Chronic rhinitis ORPHA:667
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye ORPHA:91495
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... OMIM:614748
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the ra... ORPHA:958
Aicardi Syndrome
Microcephaly, Partial agenesis of the corpus callosum, Small hand, Hip dysplasia, Aplasia/Hypopla... ORPHA:50
Pallister-Hall Syndrome
Holoprosencephaly, Mesoaxial polydactyly, Radial bowing, Umbilical hernia, Polydactyly affecting ... ORPHA:672
Kbg Syndrome
Syndactyly, Single transverse palmar crease, Microcephaly, Cutaneous syndactyly, Radial deviation... OMIM:148050
Dubowitz Syndrome
Syndactyly, Single transverse palmar crease, Microcephaly, Hypoplasia of the iris, Clinodactyly o... OMIM:223370
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema OMIM:221900
Acrocallosal Syndrome
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha... OMIM:200990
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... ORPHA:570
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microcephaly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the ... OMIM:608670
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia OMIM:153670
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Telangiectasia, Microcephaly OMIM:601675
Blepharonasofacial Malformation Syndrome
Finger syndactyly ORPHA:1252
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Ogden Syndrome
Aspiration, Apnea, Pulmonary arterial hypertension, Restrictive ventilatory defect OMIM:300855
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb... ORPHA:989
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Portal hypertension, Microcephaly, Tapered finger, Small hand, Pulmonary arterial hypertension, H... OMIM:620005
Diethylstilbestrol Syndrome
Central apnea ORPHA:1916
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Short thumb, Small hand, Telangiectasia, Short foot, Talipes equinova... OMIM:268400
Neurocardiofaciodigital Syndrome
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Polydactyly, Hypoplasia of the corpus cal... OMIM:619869
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Tricuspid regurgitation, Macrocephaly, Mesomelia, Camptodactyly, Clinodactyly, Short ... OMIM:616894
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Cutaneous syndactyly ORPHA:2890
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Hydrocephalus, Umbilical hernia, Cubitus valgus OMIM:104350
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Postaxial hand po... ORPHA:2751
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci... OMIM:617913
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Monosomy 9P
Proximal placement of thumb, Microcephaly, Abnormality of the tarsal bones, Postaxial hand polyda... ORPHA:261112
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... ORPHA:2215
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Optic nerve hypoplasia, 2-3 toe syndactyly, Talipes equinovarus, Macrocephaly,... OMIM:620025
Pearson Syndrome
Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly,... ORPHA:699
Hartsfield Syndrome
Syndactyly, Alobar holoprosencephaly, Microcephaly, Lobar holoprosencephaly, Ectrodactyly, Agenes... OMIM:615465
Vacterl/Vater Association
Finger syndactyly, Occipital encephalocele, Preaxial hand polydactyly, Anencephaly, Aplasia/Hypop... ORPHA:887
Townes-Brocks Syndrome 1
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, Tethered cord, 1-2 toe syndactyly, M... OMIM:107480
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Orofaciodigital Syndrome Type 1
Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda... ORPHA:2750
Charcot-Marie-Tooth Disease Type 4B2
Reduced vital capacity, Decreased distal sensory nerve action potential, Optic atrophy, Respirato... ORPHA:99956
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:619471
Fryns Syndrome
Single transverse palmar crease, Proximal placement of thumb, Rocker bottom foot, Short thumb, Hy... OMIM:229850
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Rhizomelia, Proximal placement of thumb, Microcephaly, Postaxial hand polydact... ORPHA:818
Amyotrophic Lateral Sclerosis 4, Juvenile
Decreased compound muscle action potential amplitude OMIM:602433
Witteveen-Kolk Syndrome
Proximal placement of thumb, Cortical dysplasia, Intracranial hemorrhage, Short palm, Clinodactyl... OMIM:613406
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea ORPHA:98754
8Q24.3 Microdeletion Syndrome
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Finger c... ORPHA:508488
Phace Association
Cerebellar hypoplasia, Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation OMIM:606519
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea ORPHA:177904
Osteoporosis-Pseudoglioma Syndrome
Microcephaly, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia OMIM:259770
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Broad hallux, Arachnodactyly, Cubitus valgus, Short finger, Microphthalmia OMIM:601552
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea ORPHA:177901
Chédiak-Higashi Syndrome
Decreased nerve conduction velocity, Pleural effusion, Epistaxis ORPHA:167
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Basal ganglia calcification, Bilateral microp... ORPHA:93325
Autosomal Recessive Spastic Paraplegia Type 55
Decreased sensory nerve conduction velocity, Optic atrophy, Optic neuropathy ORPHA:320375
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Coxa valga, Lipomyelomeningocele, Hypertension, Deep palm... OMIM:616580
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Sclerosteosis 1
Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C... OMIM:269500
Choanal Atresia
Polydactyly ORPHA:137914
Autosomal Recessive Robinow Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... ORPHA:1507
Multiple Pterygium Syndrome, Escobar Variant
Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Patellar aplasia, Hip dis... OMIM:265000
Holoprosencephaly 1
Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Microphthalmia, Ethmocephaly, Agen... OMIM:236100
Cat Eye Syndrome
Absent radius, Microphthalmia, Umbilical hernia, Pulmonic stenosis OMIM:115470
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity OMIM:261515
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Partial duplication of thumb phalanx, Hydrocephalus, Genu ... OMIM:164210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Buphthalmos, Hypoplasia o... OMIM:253280
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Bloom Syndrome
Syndactyly, Microcephaly, Hand polydactyly, Clinodactyly of the 5th finger, Facial telangiectasia... OMIM:210900
Roberts-Sc Phocomelia Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:268300
Fraser Syndrome 2
Microphthalmia, Cutaneous syndactyly OMIM:617666
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Clinodactyly of the 5th finger, Syndactyly, Broad palm OMIM:618505
Okamoto Syndrome
Tethered cord, Microcephaly, Abnormally large globe, Hip dysplasia, Syringomyelia, Polydactyly, H... ORPHA:2729
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Mucopolysaccharidosis Type 2
Papilledema, Decreased nerve conduction velocity, Optic atrophy, Upper airway obstruction, Abnorm... ORPHA:580
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Absent septum pellucidum, Aplastic clavicle, Abnormal metacarpal morphology, H... ORPHA:2658
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Broad hallux, Microcephaly, Postaxial hand... OMIM:615948
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Camptodactyly of finger, Microcephaly, Symphalangism affecting the phalanges o... ORPHA:2990
Faciocardiomelic Syndrome
Slender long bone, Polydactyly, Hypoplastic pelvis, Microcephaly OMIM:612731
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, S... OMIM:612474
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Hypoplasia of the ra... OMIM:263750
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... ORPHA:50918
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Triphalangeal t... ORPHA:794
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... ORPHA:3243
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Degcags Syndrome
Syndactyly, Tachycardia, Toe syndactyly, Microcephaly, Short thumb, Preaxial hand polydactyly, Ge... OMIM:619488
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Finger syndactyly, Bundle branch block, Congenital hip dislocation, Toe sy... ORPHA:373
Prader-Willi Syndrome
Syndactyly, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Hip dysplasia, Radial d... OMIM:176270
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia, Retinal hemorrhage, Microcephaly OMIM:308300
Carpenter Syndrome 2
Short digit, Tricuspid regurgitation, Single transverse palmar crease, Postaxial polydactyly, Pre... OMIM:614976
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Aortic regurgitation, Tapered finger, Abnormal toe morphology, Microcephaly, Hypop... ORPHA:268261
Trichothiodystrophy
Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Bilateral microph... ORPHA:33364
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Abnormal digit morpholog... ORPHA:95494
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Congenital Horner syndrome, Neonatal respiratory distress, Apnea, Asthma, EEG abnormality, Aspira... OMIM:619503
Phace Syndrome
Optic nerve hypoplasia, Microcephaly, Lens coloboma, Cerebellar hypoplasia, Microphthalmia, Agene... ORPHA:42775
Cranioectodermal Dysplasia 2
Syndactyly, Rhizomelia, Postaxial hand polydactyly, Macrocephaly, Hypertension, Polydactyly, Meso... OMIM:613610
Helsmoortel-Van Der Aa Syndrome
Broad hallux, Sandal gap, Tapered finger, Small hand, Heart murmur, Genu valgum, Mitral regurgita... OMIM:615873
Cntnap2-Related Developmental And Epileptic Encephalopathy
Periventricular leukomalacia, Preaxial polydactyly ORPHA:163681
Yunis-Varon Syndrome
Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Short ... OMIM:216340
Thyrotoxic Periodic Paralysis
Respiratory paralysis, Abnormality of peripheral nerve conduction ORPHA:79102
Fontaine Progeroid Syndrome
Syndactyly, Cerebellar vermis hypoplasia, Tricuspid regurgitation, Microcephaly, Hydrocephalus, P... OMIM:612289
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge... OMIM:619539
Mckusick-Kaufman Syndrome
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... ORPHA:2473
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Apnea ORPHA:285
Legius Syndrome
Paroxysmal atrial tachycardia, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosis, Macrocephaly... ORPHA:137605
Semilobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Abnormality of the autonomic nervous system, Abnormal patter... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Abnormality of the autonomic nervous system, Abnormal patter... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Aspiration pneumonia, Abnormality of the autonomic nervous system, Abnormal patter... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Abnormality of the autonomic nervous system, Abnormal patter... ORPHA:93924
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Relative macrocephaly, Syndactyly, Narrow joint spaces of the elbow, Clinodactyly of the 5th fing... ORPHA:96182
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Optic disc pallor, Apnea, Breathing dysregulation, Aspiration pneumonia ORPHA:438213
Friedreich Ataxia
Decreased motor nerve conduction velocity, Optic atrophy ORPHA:95
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophilia, Thrombocytopenia, Leukocyto... ORPHA:3260
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Syndactyly, Broad hallux, Deviation of the hallux, Cardiac conduction abnormality, Avascular necr... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Syndactyly, Broad hallux, Deviation of the hallux, Cardiac conduction abnormality, Avascular necr... ORPHA:353277
Cockayne Syndrome Type 3
Cerebral white matter atrophy, Basal ganglia calcification, Subdural hemorrhage, Retinal hemorrha... ORPHA:90324
Reynolds Syndrome
Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine... OMIM:613471
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... ORPHA:857
3Mc Syndrome 3
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly OMIM:248340
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Cockayne Syndrome A
Decreased nerve conduction velocity, Optic atrophy, Abnormal auditory evoked potentials OMIM:216400
Monosomy 22
Finger syndactyly, Single transverse palmar crease, Microcephaly, Clubbing, Clinodactyly of the 5... ORPHA:96123
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Schizencephaly, Cerebral hemorrhage, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Retin... OMIM:175780
Metachromatic Leukodystrophy
Decreased nerve conduction velocity ORPHA:512
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocy... ORPHA:77293
Papillorenal Syndrome
Microphthalmia, Hypertension OMIM:120330
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Arachnodactyly, Microcephaly, Calcaneovalgus deformity, Adducted thumb, Macrocephaly, Talipes equ... ORPHA:562528
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Arachnodactyly, Microcephaly, Small hand, Elbow flexion contracture, Talipes equ... ORPHA:371364
Mosaic Trisomy 16
Syndactyly, Single transverse palmar crease, Short thumb, Large placenta, Short femoral neck, Cli... ORPHA:1708
Lymphedema-Distichiasis Syndrome
Microphthalmia, Arrhythmia OMIM:153400
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Microcephaly ORPHA:322
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Postaxial polydactyly, Microcephaly, Hip dysplasia, Branchial anomaly, Ta... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Postaxial polydactyly, Microcephaly, Hip dysplasia, Branchial anomaly, Ta... ORPHA:352665
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Narrow greater sciatic notch, Short palm, Agenesis of corpus callos... OMIM:312870
Renpenning Syndrome 1
Microcephaly, Cerebral atrophy, Camptodactyly, Clinodactyly of the 5th finger, Microphthalmia, Sy... OMIM:309500
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Palmoplantar hyperkeratosis, Bilateral single transverse palma... ORPHA:3253
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Broad palm, Short foot, Camptodactyly, C... OMIM:227330
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Absent septum pellucidum, Dysplastic corpus callosum, Secondary microcephaly, Holopro... OMIM:618820
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Split hand ORPHA:1300
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Cockayne Syndrome
Cerebral calcification, Cerebral dysmyelination, Basal ganglia calcification, Retinal hemorrhage,... ORPHA:191
Culler-Jones Syndrome
Postaxial polydactyly OMIM:615849
Robinow Syndrome
Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Mesomelic arm shortening, Radioulna... ORPHA:97360
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Congenital hip dislocation, Overlapping toe, Cerebellar vermis hypoplasia, Postaxi... ORPHA:480880
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Broad hallux, Single transverse palmar crease, Pulmonary arterial hypertension, M... OMIM:620186
Mckusick-Kaufman Syndrome
Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly OMIM:236700
Orofaciodigital Syndrome Type 4
Finger syndactyly, Camptodactyly of finger, Micromelia, Microcephaly, Preaxial hand polydactyly, ... ORPHA:2753
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Decreased sensory nerve conduction velocity OMIM:615273
Autosomal Dominant Robinow Syndrome
Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ... ORPHA:3107
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Adult Syndrome
Finger syndactyly, Toe syndactyly, Split foot ORPHA:978
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Wrist swelling, Hip dislocation, Periventricular cysts, Genu valgum, Fin... OMIM:309000
Tetraamelia Syndrome 1
Microphthalmia, Hydrocephalus, Hypoplastic pelvis OMIM:273395
Peters-Plus Syndrome
Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Short metat... OMIM:261540
Rapp-Hodgkin Syndrome
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma OMIM:129400
Rabson-Mendenhall Syndrome
Cardiomyopathy, Polydactyly ORPHA:769
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus c... ORPHA:261537
Fraser Syndrome 3
Short toe, Hydrocephalus, Cutaneous syndactyly OMIM:617667
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydrocephalus, Dural ecta... OMIM:610168
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Polydactyly, Microcephaly OMIM:301022
Holoprosencephaly 2
Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Holoprosencephaly, Microphthalmia,... OMIM:157170
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig... ORPHA:69085
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... ORPHA:2363
Yellow Fever
Acute pancreatitis, Neutrophilia, Anuria, Elevated circulating creatine kinase concentration, Ren... ORPHA:99829
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Elevated circulating creatine kinas... ORPHA:99827
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormality of the upper limb, Sho... ORPHA:1556
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Proximal placement of thumb, ... ORPHA:1896
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity OMIM:606002
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Congestive heart failure, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly,... OMIM:181270
Isolated Arrhinia
Microphthalmia ORPHA:1134
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus c... ORPHA:261552
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... OMIM:149730
Treacher-Collins Syndrome
Encephalocele, Microphthalmia, Branchial fistula ORPHA:861
Pmm2-Cdg
Proteinuria, Reduced thyroxin-binding globulin, Abnormal liver parenchyma morphology, Nephrotic s... ORPHA:79318
Coffin-Siris Syndrome 12
Microcephaly, Short thumb, Slender finger, Noncommunicating hydrocephalus, Heart murmur, Cutaneou... OMIM:619325
Oculocerebrorenal Syndrome Of Lowe
Hip dislocation, Genu valgum, Buphthalmos, Umbilical hernia, Abnormal epiphysis morphology, Micro... ORPHA:534
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Down-sloping shoulders, Short foot, Clinodactyly of the 5th finger, Brachydactyly ORPHA:1974
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Doors Syndrome
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Microcephaly, Abnormal toe morphology, Abnorm... ORPHA:79500
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Palmoplantar hyperkeratos... ORPHA:2907
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ... OMIM:617088
Proteus Syndrome
Hallux valgus, Finger syndactyly, Macrodactyly, Sudden cardiac death, Metatarsus valgus, Pulmonar... ORPHA:744
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus c... ORPHA:2152
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature ORPHA:1521
Trichorhinophalangeal Syndrome, Type Ii
Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Myocardial infar... OMIM:150230
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Short toe, Clinodactyly of the 5th finger, Umbilical hernia, Arrhythmia, Brach... ORPHA:1519
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Cerebellar vermis hypoplasia, Sandal gap, Optic nerve hypoplasia, Microcephaly, Long fingers, Cut... OMIM:620330
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of the autonomic nervous system, Orthostatic hypotension due to autonomic dysfunction... ORPHA:642
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... ORPHA:99125
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Genu varum ORPHA:1969
Mowat-Wilson Syndrome
Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of... OMIM:235730
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Adducted thumb, Ulnar deviation of finger, Aplas... ORPHA:1147
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy ORPHA:293987
Niemann-Pick Disease Type C
Narcolepsy ORPHA:646
Norrie Disease
Aplasia/Hypoplasia of the lens, Microcephaly, Hypoplasia of the iris, Aplasia/Hypoplasia of the c... ORPHA:649
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction OMIM:601992
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma ORPHA:1071
Hennekam Syndrome
Finger syndactyly, Pachygyria, Camptodactyly of finger ORPHA:2136
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short 4th metacarpal, Short... ORPHA:2908
African Trypanosomiasis
Narcolepsy ORPHA:3385
Pallister-Killian Syndrome
Stillbirth, Apneic episodes in infancy, Hyperventilation OMIM:601803
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Hip contracture, Metatarsus adductus, Calcaneovalgus deformity, Elbow flexion contracture, Cerebr... OMIM:616266
Choreoacanthocytosis
Abnormal autonomic nervous system physiology, Decreased amplitude of sensory action potentials ORPHA:2388
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Freeman-Sheldon Syndrome
Camptodactyly of finger, Talipes equinovarus, Absent palmar crease, Ulnar deviation of finger ORPHA:2053

Histopathology

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

There is no histopathology data for Nalcn

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 Nalcn.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Sodium leak channel contributes to neuronal sensitization in neuropathic pain. Progress in neurobiology (March 2021) Nalcntm1c(KOMP)Wtsi 33766679
Gi/o protein-coupled receptors in dopamine neurons inhibit the sodium leak channel NALCN. eLife (December 2018) Nalcntm1a(KOMP)Wtsi PMC6305199
Respiratory Network Stability and Modulatory Response to Substance P Require Nalcn. Neuron (April 2017) Nalcntm1c(KOMP)Wtsi PMC5702257
The leak channel NALCN controls tonic firing and glycolytic sensitivity of substantia nigra pars reticulata neurons. eLife (May 2016) Nalcntm1c(KOMP)Wtsi PMC4902561
A Conserved Bicycle Model for Circadian Clock Control of Membrane Excitability. Cell (August 2015) Nalcntm1c(KOMP)Wtsi Nalcntm1a(KOMP)Wtsi PMC4537776

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
Nalcntm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Nalcntm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nalcnem1(IMPC)Mbp Indel Mice, Tissue
Nalcntm119088(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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