Gene: Aak1 MGI:1098687

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Gene Summary

AP2 associated kinase 1
5530400K14Rik,  D6Ertd245e

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
abnormal auditory brainstem response Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 4.27×10-16
preweaning lethality, incomplete penetrance Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased circulating total protein level Aak1tm1b(EUCOMM)Hmgu HOM Early adult 7.20×10-07
increased vertical activity Aak1tm1b(EUCOMM)Hmgu HOM Early adult 3.21×10-13
increased circulating alanine transaminase level Aak1tm1b(EUCOMM)Hmgu HOM Early adult 5.01×10-05
decreased grip strength Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 4.91×10-06
impaired glucose tolerance Aak1tm1b(EUCOMM)Hmgu HOM Early adult 8.41×10-05
decreased startle reflex Aak1tm1b(EUCOMM)Hmgu HOM Early adult 5.19×10-07
decreased circulating serum albumin level Aak1tm1b(EUCOMM)Hmgu HOM Early adult 4.81×10-05
hyperactivity Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 3.54×10-05
short tibia Aak1tm1b(EUCOMM)Hmgu HOM Early adult 4.70×10-14
abnormal bone structure Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 3.80×10-10
abnormal contextual conditioning behavior Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 3.57×10-05
abnormal retinal outer nuclear layer morphology Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 6.76×10-05
increased circulating aspartate transaminase level Aak1tm1b(EUCOMM)Hmgu HOM Early adult 3.45×10-15
abnormal heart left ventricle morphology Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 3.41×10-05
decreased circulating cholesterol level Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 5.63×10-05
increased circulating alkaline phosphatase level Aak1tm1b(EUCOMM)Hmgu HOM Early adult 3.27×10-11
increased prepulse inhibition Aak1tm1b(EUCOMM)Hmgu HOM Early adult 3.04×10-06

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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.


XRay Images Whole Body Dorso Ventral

16 Images


XRay Images Whole Body Lateral Orientation

16 Images

Human diseases caused by Aak1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Aak1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Ataxia, Pes cavus, Hypoalbuminemia, Steppage gait OMIM:607250
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Dystonia, Gait ataxia, Truncal ataxia, Tremor, Dementia, Limb ataxia, Ataxi... OMIM:208920
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Ataxia, Distal lower limb muscle weakness, Pes cavus, Hypoalbuminemia, Step... ORPHA:94124
Immunodeficiency 43
Radial bowing, Hypoproteinemia, Hypoalbuminemia, Hypoplasia of the ulna OMIM:241600
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Tremor, Acute hyperammonemia, Hypertriglyceridem... ORPHA:247585
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Osteoporosis, Hypercholesterolemia, Elevated circulating transferrin concentration, Hypoalbuminem... OMIM:616000
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Chorioretinal coloboma, Hypoproteinemia, Clinodactyly of the 5th finger ORPHA:1116
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of ... ORPHA:93323
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Still... OMIM:200700
Lymphangiectasia, Intestinal
Pedal edema, Neonatal hypoproteinemia, Stillbirth OMIM:152800
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Sensorineural hearing impairment OMIM:221400
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Dystonia, Postural tremor, Head tremor, Elevated alpha-fetoprotein, Ataxia,... ORPHA:64753
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Lethargy, Atrial septal defect, Patent foramen ovale, Dilated card... ORPHA:26793
Inability to walk, Camptodactyly of finger, Abnormality of long bone morphology, Craniosynostosis... ORPHA:356961
Primary Membranoproliferative Glomerulonephritis
Drusen, Hypoalbuminemia ORPHA:54370
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Congenital Disorder Of Glycosylation, Type Ij
Clinodactyly of the 5th finger, Hypoproteinemia, Micrognathia, Tremor OMIM:608093
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Nephrotic Syndrome, Type 14
Hypoglycemia, Ataxia, Hypertriglyceridemia, Sensorineural hearing impairment, Hypoalbuminemia, Me... OMIM:617575
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypoglycemia OMIM:617156
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Ventricular septal defect, Partial duplication of thumb phalanx, Clinodacty... OMIM:616730
Insulin-Like Growth Factor I Deficiency
Radial deviation of finger, Clinodactyly, Sensorineural hearing impairment, Hyperactivity, Osteop... OMIM:608747
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hypoalbuminemia, Broad-based gait OMIM:618805
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Dengue Fever
Hypoproteinemia, Lethargy ORPHA:99828
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Pedal edema, Hypoalbuminemia, Increased alpha-globulin, Hy... ORPHA:86816
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Ataxia, Hypertriglyceridemia, Hyperactivity, Mental deterioration OMIM:615924
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Pigmentary retinopathy, Ataxia, Hypocholesterolemia, Decreased LDL choleste... ORPHA:96180
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Hypoplasia of the radius, Short femur, Rhizomelia, Abnormality of the pinna, Short ... OMIM:607143
Fibronectin Glomerulopathy
Pedal edema, Hypoalbuminemia ORPHA:84090
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Congenital Disorder Of Glycosylation, Type Ih
Abnormal heart morphology, Camptodactyly, Hypoalbuminemia, Talipes equinovarus, Abnormal cardiac ... OMIM:608104
Galloway-Mowat Syndrome 6
Clinodactyly of the 5th finger, Hypoalbuminemia OMIM:618347
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyc... OMIM:610947
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Johanson-Blizzard Syndrome
Hypoproteinemia, Dextrocardia, Sensorineural hearing impairment, Abnormal cardiac septum morpholo... ORPHA:2315
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Primary Intestinal Lymphangiectasia
Osteoporosis, Hypocalcemia, Hypoproteinemia, Pericardial effusion, Pedal edema, Hypoalbuminemia ORPHA:90362
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Macrotia, Low-set, posteriorly rotated ea... OMIM:618156
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Tremor, Dementia, Prelingu... ORPHA:52368
Nephrotic Syndrome, Type 8
Sensorineural hearing impairment, Hypoalbuminemia OMIM:615244
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperostosis, Clubbing, Hypoalbuminemia, Periostosis OMIM:614441
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Inability to walk, Hypoproteinemia, Abnormality of ... ORPHA:167
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Clubbing of fingers, Hypoproteinemia, Clubbing, Hypoalbuminemia OMIM:226300
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Peroxisome Biogenesis Disorder 3B
Osteoporosis, Steatorrhea, Retinal dystrophy, Hypocholesterolemia, Sensorineural hearing impairme... OMIM:266510
Hypoalbuminemia, Cardiomegaly, Abnormal circulating apolipoprotein concentration, Abnormality of ... ORPHA:14
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Arachnodactyly, Hypoalbuminemia OMIM:619013
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Talipes equinovarus, Atrial septal defect, Ventricular septal defect, Conductive hearing impairme... OMIM:235510
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Potocki-Lupski Syndrome
Atrial septal defect, Hypocholesterolemia, Hearing impairment, EEG abnormality, Hyperactivity, Pa... OMIM:610883
Immunodeficiency 27A
Hypoplasia of the femoral head, Hypoalbuminemia OMIM:209950
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Postaxial hand polydactyly, Ventricular septal defect, Micrognathia OMIM:235255
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Pedal edema ORPHA:90363
Omenn Syndrome
Hypoproteinemia OMIM:603554
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... OMIM:616050
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Wolcott-Rallison Syndrome
Atrial septal defect, Difficulty walking, Hyperbilirubinemia, Hyponatremia, Metaphyseal dysplasia... ORPHA:1667
Stuve-Wiedemann Syndrome
Short phalanx of finger, Micrognathia, Femoral bowing, Thickened cortex of long bones, Osteoporos... OMIM:601559
Charcot-Marie-Tooth Disease, Type 4B1
Talipes equinovarus, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentia... OMIM:601382
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Immunodeficiency 8
Hyperactivity OMIM:615401
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Hyperprolinemia, Type I
Hyperactivity, EEG abnormality, Ataxia, Hyperprolinemia OMIM:239500
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Atrial septal defect, Flared iliac wing, Chorioretinal hypopigmentation, Aceta... OMIM:617303
Congenital Disorder Of Glycosylation, Type Ia
Macrotia, Pericardial effusion, Ataxia, Hypocholesterolemia, Hypoalbuminemia, Osteopenia, Rod-con... OMIM:212065
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity ORPHA:436151
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Hypocholesterolemia, Decreased LDL cholesterol concent... OMIM:256840
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip dysplasia, Shortening of all distal phalanges of the fingers, Thickened helices, EEG with mul... OMIM:616809
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Hemorrhagic Fever-Renal Syndrome
Hypoproteinemia, Abnormal myocardium morphology, Abnormal pericardium morphology ORPHA:340
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent Achilles reflex, Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor... ORPHA:1215
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Postaxial hand polydactyly, Ventricular septal defect, Micrognathia ORPHA:1655
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... ORPHA:529799
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Pes planus, Hypermethioninemia, Abnormal circula... ORPHA:88618
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Overlapping toe, Micrognathia, Posteriorly rotated ears, Fibular hypoplasia, Clinod... OMIM:201170
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Glucose intolerance, Orthostatic hypotension, Insulin resistan... OMIM:606721
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecular bone morpholo... ORPHA:79106
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Abnormal auditory evoked potentials... ORPHA:320401
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Hypoalbuminemia ORPHA:507
Eosinophilic Gastroenteritis
Steatorrhea, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly, EEG with focal spikes, Hypoalbuminemia ORPHA:255249
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Hypoglycemia, Neonatal death, Hypoalbuminemia, Elevated circulating creati... OMIM:619055
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Hyperinsulinemia, Insulin resistance, Ataxia, Hypertriglyceridemia, Progress... ORPHA:363400
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Abnormal heart morphology, Postural hypotension with ... ORPHA:85443
Congenital Enterovirus Infection
Pericardial effusion, Hypoalbuminemia, Myocarditis, Hyperammonemia, Cardiomyopathy ORPHA:292
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial pa... OMIM:617519
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials, Sensorineural hea... OMIM:616648
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia, Hypoglycemia OMIM:251880
Glycine Encephalopathy
Lethargy, Hyperglycinemia, Hyperactivity OMIM:605899
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Intellectual Developmental Disorder, X-Linked 104
Tremor, Abnormality of the pinna, Ataxia, Hyperactivity, Optic atrophy OMIM:300983
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic act... ORPHA:206443
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Galloway-Mowat Syndrome 1
Dystonia, Macrotia, Micrognathia, Camptodactyly, Ataxia, Slender finger, Hypoalbuminemia, Pes cav... OMIM:251300
Smith-Magenis Syndrome
Hypercholesterolemia, Abnormal heart morphology, Pes planus, Morphological abnormality of the mid... OMIM:182290
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Sensorineural hearing impairm... ORPHA:540
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Bilateral sensorineural hearing impairment, Insulin resistance, Congenital sensorin... ORPHA:73272
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Abnormal cardiomyocyte morphology, Hypoalbuminemia ORPHA:367
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Forearm undergrowth, Absent radius, Tali... OMIM:251230
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Abnormality of retinal pigmentation, Atrial septal defect, Abnormal heart morp... ORPHA:505248
Abcd Syndrome
Hypopigmentation of the fundus, Hearing impairment, Abnormal auditory evoked potentials, Aganglio... OMIM:600501
Refractory Anemia With Excess Blasts
Pedal edema, Retinal hemorrhage, Abnormal circulating albumin concentration, Abnormal circulating... ORPHA:86839
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:616834
Smith-Magenis syndrome
Brachydactyly, Hyperactivity DECIPHER:8
Hyperlysinemia, Type I
Cognitive impairment, Hyperlysinemia, Hyperactivity OMIM:238700
Orofaciodigital Syndrome Ix
Hand polydactyly, Toe syndactyly, Retinal coloboma, Camptodactyly, Short tibia OMIM:258865
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Small hand, Short foot, Hyperactivity, Talipes equinovarus, Hip dislocation OMIM:300434
Charcot-Marie-Tooth Disease, Type 4D
Talipes cavus equinovarus, Gait disturbance, Hearing impairment, Abnormal auditory evoked potenti... OMIM:601455
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irreg... OMIM:600081
Microphthalmia With Limb Anomalies
Tarsal synostosis, Broad thumb, Abnormality of the metacarpal bones, Sandal gap, Micrognathia, Po... ORPHA:1106
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Broad thumb, Overfolded helix, Flare... OMIM:609945
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Avian Influenza
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Elevated circulating C-react... ORPHA:454836
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Tremor, Dystonia, Ataxia, Hyperactivity OMIM:612716
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Ventricular septal defect, Hypermethioninemia, Pulmonic stenosis... OMIM:222470
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
X-Linked Intellectual Disability, Stocco Dos Santos Type
Talipes equinovarus, Congenital bilateral hip dislocation, Hyperactivity ORPHA:85288
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Attenuation of retinal blood vessels, Irregular epiphyses, Ataxia, Retinal degen... OMIM:619260
Landau-Kleffner Syndrome
Memory impairment, Gait ataxia, Interictal EEG abnormality, EEG with frontal focal spikes, EEG wi... ORPHA:98818
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Hypoalbuminemia, Abnormal pericardium morphology ORPHA:67
Coffin-Siris Syndrome 7
Macrotia, Abnormal heart morphology, Posteriorly rotated ears, Hearing impairment, Clinodactyly, ... OMIM:618027
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Myocarditis, Elevat... ORPHA:36234
Cerebrotendinous Xanthomatosis
Dystonia, Abnormality of tibia morphology, Abnormal atrial septum morphology, Abnormal motor evok... ORPHA:909
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Acrocraniofacial Dysostosis
Craniosynostosis, Conductive hearing impairment, Short 1st metacarpal, Metatarsus adductus, Abnor... OMIM:201050
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Micrognathia, Hypertrophic cardiomyopathy, Hypocholesterolemia OMIM:618810
Pierson Syndrome
Hypoproteinemia OMIM:609049
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Falls, Hyperactivity, Mental deterioration ORPHA:2382
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Gait ataxia, Hand tremor, Proximal lower limb amyotrophy, Head tremor, Limb at... ORPHA:101085
Primary Biliary Cholangitis
Osteoporosis, Orthostatic hypotension, Conjugated hyperbilirubinemia, Abnormal circulating lipid ... ORPHA:186
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Macrotia, Posteriorly rotated ears, Hyperactivity, Clinodactyly of the 5th finger, T... OMIM:609425
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Decreased calvarial ossification, Preaxial polydactyly, A... OMIM:617925
Galloway-Mowat Syndrome 3
Camptodactyly, Hypoalbuminemia, Hip dislocation, Micrognathia, Arachnodactyly OMIM:617729
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Pericardial effusion, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagn... OMIM:618183
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, EEG with spike-wave complexes, Truncal ataxia, Ata... ORPHA:228360
Femoral-Facial Syndrome
Hip dysplasia, Maternal diabetes, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, ... ORPHA:1988
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Tremor, Gait ataxia, Autonomic bladder dysfunction, Dementia, Orthostatic hyp... ORPHA:99027
Intellectual Developmental Disorder, X-Linked 101
Macrotia, Hyperactivity OMIM:300928
Rasmussen Subacute Encephalitis
Inability to walk, Increased theta frequency activity in EEG, EEG with focal epileptiform dischar... ORPHA:1929
Mend Syndrome
Overlapping fingers, Hand polydactyly, Overlapping toe, Abnormal heart morphology, 2-3 toe syndac... ORPHA:401973
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivi... ORPHA:248111
Juvenile Polyposis Of Infancy
Clubbing of fingers, Atrial septal defect, Broad thumb, Abnormal heart morphology, Midclavicular ... ORPHA:79076
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Mitten deformity, Decreased serum iron, Decreased serum zinc, Hypoalb... ORPHA:89842
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Abnormal heart morphology, Hyperactivity DECIPHER:39
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Optic atrophy, Hyperactivity OMIM:274270
Mental Retardation, Autosomal Recessive 61
Posteriorly rotated ears, Pes cavus, EEG abnormality, Hyperactivity, Talipes equinovarus, Tapered... OMIM:617773
Chylomicron Retention Disease
Retinopathy, Steatorrhea, Hypocholesterolemia ORPHA:71
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Rickets, Reduced bone mineral density, Hypoalbuminemia, Thin bony cortex, Osteopenia OMIM:613658
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, EEG abnormality, Ataxia, Elevated circulating gamma-aminobutyric acid concentration OMIM:271980
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Attention deficit hyperactivity disorder, ... OMIM:261600
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Hip subluxation, Metatarsus adductus, Short thumb, Hyperactivity, Micrognat... OMIM:270400
Adult Krabbe Disease
Progressive neurologic deterioration, Prolonged brainstem auditory evoked potentials, Gait distur... ORPHA:206448
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irreg... OMIM:241530
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, Clinodactyly of t... ORPHA:96334
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Type I diabetes melli... ORPHA:37042
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Bulging epiphyses, Femoral bowing, Fibular bowing, Subperiosteal bone resorptio... OMIM:264700
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Juvenile Polyposis Syndrome
Clubbing, Hypokalemia, Hypoalbuminemia OMIM:174900
Fraxe Intellectual Disability
Clinodactyly of the 5th finger, Prominent ear helix, Hyperactivity ORPHA:100973
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Hypsarrhythmia, EEG with focal epileptiform discharges, Multifocal epileptiform dischar... ORPHA:88616
Intellectual Developmental Disorder, X-Linked 107
Macrotia, Hyperactivity OMIM:301013
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Congenital hip dislocation, Ventricular septal defect, Abnormality of the p... OMIM:244450
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Bulging epiphyses, Femoral bowing, Fibular bowing, Subperiosteal bone resorptio... OMIM:277440
Optic Atrophy 11
Facial diplegia, Macrotia, Ataxia, Hearing impairment, Dysmetria, Hyperactivity, Optic atrophy OMIM:617302
Cockayne Syndrome Type 1
Tremor, Increased blood urea nitrogen, Pigmentary retinopathy, Macrotia, Difficulty walking, Gait... ORPHA:90321
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Abnormal cortical... ORPHA:3344
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity OMIM:248510
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Cupped ear, Hand monodactyly, Split foot, Patellar aplasi... OMIM:119100
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Mesomelia,... OMIM:268305
Tay-Sachs Disease
Inability to walk, Dystonia, Tremor, Limited knee extension, Gait disturbance, Ankle clonus, Incr... ORPHA:845
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Atrial septal defect, Preaxial hand... OMIM:263520
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, EEG with spike-wave complexes, EEG with series of focal spikes, Dementia, EEG ... ORPHA:168491
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic ricket... OMIM:307800
Sotos Syndrome 3
Hyperactivity OMIM:617169
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Hypoalbuminemia, Palmoplantar keratoderma ORPHA:79396
Ck Syndrome
Abnormal cortical bone morphology, Posteriorly rotated ears, Abnormal digit morphology, Hyperacti... OMIM:300831
Omodysplasia 1
Hypoplastic distal humeri, Atrial septal defect, Ventricular septal defect, Limited knee extensio... OMIM:258315
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... ORPHA:2378
Mental Retardation, Autosomal Dominant 43
Tapered finger, Hyperactivity OMIM:616977
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irreg... OMIM:300554
Myoclonic-Astatic Epilepsy
Tremor, Ataxia, Interictal epileptiform activity, EEG with polyspike wave complexes, EEG with gen... ORPHA:1942
Rubinstein-Taybi Syndrome 2
Posterior helix pit, Broad thumb, Broad hallux, Syndactyly, Hyperactivity, Micrognathia OMIM:613684
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Dilated cardiomyopathy, Myocardial fibrosis, Retinal dysplasia, Pulmonic st... OMIM:253800
Chromosome 2Q37 Deletion Syndrome
Short toe, Short metatarsal, Short phalanx of finger, Short metacarpal, Sensorineural hearing imp... OMIM:600430
Alazami-Yuan Syndrome
Broad hallux, Hyperactivity OMIM:617126
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pedal edema, Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Abnormal heart morphology, Joint contracture of the 5th finger, Hyperactivi... ORPHA:352490
19P13.12 Microdeletion Syndrome
Craniosynostosis, Atrial septal defect, Ventricular septal defect, Conductive hearing impairment,... ORPHA:254346
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short phalanx of finger, Cone-shaped epiphysis, Short metacarpal, Hyperactivity... OMIM:614613
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Pedal edema, Hypoglycemia, Hypokalemia, Hypercalcemia, Hypoalbu... ORPHA:88673
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Low-set, posteriorly rotated ears, Adducted thum... ORPHA:3320
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Hypsarrhythmia, EEG with burst suppression, Pulmonic stenosis, Hyperactivit... OMIM:619239
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Ck Syndrome
Microretrognathia, Posteriorly rotated ears, Long toe, Hyperactivity, Long fingers ORPHA:251383
Primary Sclerosing Cholangitis
Osteoporosis, Osteopenia, Type I diabetes mellitus, Hypoalbuminemia ORPHA:171
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hip dislocation, Sensorineural hearing impairment, Coxa valga OMIM:109120
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Pes planus, Short foot, Sandal gap, Posteriorly rotated ears, Clinodactyly, Small hand, Hyperacti... OMIM:618089
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Hyperactivity, Focal EEG discharges with secondary generalization, Shuffl... ORPHA:3077
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Mend Syndrome
Overlapping fingers, Overlapping toe, Polydactyly, Microretrognathia, 2-3 toe syndactyly, Aortic ... OMIM:300960
Dent Disease 1
Hypophosphatemia, Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irreg... OMIM:300009
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Hyperactivity, Genu valgum, Rhizomelia, Short long bone, Abnormal femoral ... ORPHA:239
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Pes planus, Abnormality of the pinna, Short foot, Sandal gap, Small hand, Pe... OMIM:300354
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Decreased circulating cortisol level, Gait disturbance, At... ORPHA:139396
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, EEG abnormality, Hyperactivity OMIM:618718
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Stillbirth, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypo... OMIM:119800
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Femoral bowing, Subperiosteal bone resorption, Enlargement of the... ORPHA:289157
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Camptodactyly, Flexion contracture of toe, Hearing impairment, Abnormal audit... OMIM:193700
Mental Retardation, Autosomal Recessive 39
Macrotia, Hyperactivity OMIM:615541
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of... ORPHA:397973
Infantile Krabbe Disease
Progressive neurologic deterioration, Prolonged brainstem auditory evoked potentials, Cherry red ... ORPHA:206436
Gand Syndrome
Long fingers, Long toe, Hyperactivity OMIM:615074
Cockayne Syndrome A
Tremor, Dementia, Pigmentary retinopathy, Square pelvis bone, Hypoplastic pelvis, Gait disturbanc... OMIM:216400
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia, Abnormal heart morphology OMIM:188740
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Neonatal death, Sh... OMIM:227270
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Psychomotor deterioration, Abnormal autonomic nervous system physiolo... ORPHA:35069
Seckel Syndrome 10
Ventricular hypertrophy, Glucose intolerance, Insulin resistance, Microretrognathia, Elevated hem... OMIM:617253
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Abnormality of the tarsal bones, Gait disturbance, Abnormal pelvi... ORPHA:352540
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibial bowing, Coxa vara, Wadd... OMIM:602111
Clark-Baraitser Syndrome
Sandal gap, Clinodactyly, Hyperactivity OMIM:617752
Tangier Disease
Coronary artery stenosis, Hypocholesterolemia, Hypertriglyceridemia, Left ventricular hypertrophy... ORPHA:31150
Pericarditis, Papilledema, Hyperproteinemia, Optic neuritis, Chorioretinitis, Retinal hemorrhage,... ORPHA:509
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Conductive hearing impairm... OMIM:171480
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Congenital hip dislocation, Broad thumb, Short th... OMIM:304120
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Progressive neurologic deterioration, Dense calvaria, Hearing impa... OMIM:252920
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, EEG abnormality, Ataxia, Hyperactivity ORPHA:411515
X-Linked Creatine Transporter Deficiency
Dystonia, Abnormal circulating creatine concentration, Aganglionic megacolon, Ataxia, Hyperactivi... ORPHA:52503
Mucopolysaccharidosis, Type Iiic
Asymmetric septal hypertrophy, Dense calvaria, Hearing impairment, Motor deterioration, Hyperacti... OMIM:252930
Occipital Horn Syndrome
Large iliac wing, Pes planus, Abnormality of fibula morphology, Aplastic clavicle, Osteoporosis, ... ORPHA:198
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Sensorineural hearing impairment, Pes cavus, Hyperactivity OMIM:609727
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Macrotia, Camptodactyly, Ataxia, Multifocal... ORPHA:369891
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Hyperactivity, Abnormal cardiac septum morphology, Attention deficit hyperactivity ... OMIM:614294
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asym... OMIM:608571
19P13.3 Microduplication Syndrome
Osteoporosis, Hip dysplasia, Hip subluxation, Ventricular septal defect, Posteriorly rotated ears... ORPHA:447980
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Tremor, Toe syndactyly, Down-sloping shoulders, Short palm, Short foot, ... ORPHA:85293
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response, Pes cavus, Optic atrophy, Hyporeflexia of lower... ORPHA:320406
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Low-set, posteriorly rotated ears, 2-3 toe syndactyly, Hyperactivity, ... ORPHA:3306
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Foot oligodactyly... OMIM:206920
16P12.1P12.3 Triplication Syndrome
Short 5th finger, Atrial septal defect, Large earlobe, Abnormal heart morphology, Abnormal tricus... ORPHA:485405
Juvenile Polyposis Syndrome
Clubbing of fingers, Hypoproteinemia ORPHA:2929
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Pedal edema, Myocardial calcification, Left... ORPHA:75565
Fibrochondrogenesis 1
Posterior vertebral hypoplasia, Stillbirth, Rhizomelia, Camptodactyly, Hypoplastic scapulae, Broa... OMIM:228520
Fragile X Syndrome
Mitral valve prolapse, Macrotia, Pes planus, Hyperactivity OMIM:300624
Tremor, Hypoornithinemia, Craniosynostosis, EEG with spike-wave complexes, Hypoplastic helices, H... ORPHA:2203
Gm2 Gangliosidosis, Ab Variant
Cognitive impairment, Dystonia, Cherry red spot of the macula, Exaggerated startle response ORPHA:309246
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Cockayne Syndrome B
Osteoporosis, Tremor, Pigmentary retinopathy, Square pelvis bone, Hypoplastic pelvis, Hypoplastic... OMIM:133540
Campomelic Dysplasia
Talipes equinovarus, Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Abnormal... OMIM:114290
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve, Hearing impairment, Broad-based gait, Hyperactivity OMIM:300958
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Stillb... OMIM:108720
Intellectual Disability, Birk-Barel Type
Congenital finger flexion contractures, Fatigable weakness of skeletal muscles, Fatiguable weakne... ORPHA:166108
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Progressive inability to walk, Sensorineural hearing impair... ORPHA:581
Intellectual Developmental Disorder, X-Linked 30
Macrotia, Hyperactivity OMIM:300558
Trisomy 10P
Flexion contracture of thumb, Low voltage EEG, Abnormal hip joint morphology, Macrotia, Abnormal ... ORPHA:171929
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia, Hyperactivity OMIM:618314
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Macrotia, Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, 2-3 toe syndactyly, Absent thumb, Hearing impairme... OMIM:617516
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypoplastic pelvis, Irregula... OMIM:208500
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Abnormal foot morphology, Broad-based gait, Hyperactivity OMIM:617865
Autosomal Recessive Hypophosphatemic Rickets
Lower limb asymmetry, Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic ric... ORPHA:289176
Cri-Du-Chat Syndrome
Short metatarsal, Difficulty walking, Pes planus, Microretrognathia, Abnormality of the pinna, Sh... OMIM:123450
Tibia, Absence Of, With Congenital Deafness
Hearing impairment, Absent tibia OMIM:275230
Seckel Syndrome 1
Dislocated radial head, Hypoplasia of proximal fibula, Talipes, Pes planus, Abnormality of the pi... OMIM:210600
Spastic Tetraplegia And Axial Hypotonia, Progressive
Overlapping toe, Low-set, posteriorly rotated ears, Ankle clonus, Ataxia, Exaggerated startle res... OMIM:618598
Clcn4-Related X-Linked Intellectual Disability Syndrome
Pes planus, Progressive cerebellar ataxia, Unsteady gait, Hyperactivity, EEG with focal spikes ORPHA:485350
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Broad-based gait, Hyperactivity ORPHA:457260
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, EEG abnormality, Hyperactivity ORPHA:500180
Osteoporosis, Photoreceptor layer loss on macular OCT, Pericarditis, Hyperinsulinemia, Insulin re... ORPHA:79318
Hydrolethalus Syndrome 1
Postaxial hand polydactyly, Preaxial hand polydactyly, Upper limb undergrowth, Stillbirth, Ventri... OMIM:236680
Mental Retardation, Autosomal Dominant 7
Thickened helices, Macrotia, Gait disturbance, Abnormality of the pinna, Ataxia, Hyperactivity, M... OMIM:614104
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Papilledema, Sensorineural hearing impairment, Hyperactivit... ORPHA:580
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Macrotia, Ataxia, Hyperactivity OMIM:300912
Stiff Person Spectrum Disorder
Difficulty walking, Exaggerated startle response, Diabetes mellitus, Falls ORPHA:3198
Plaa-Associated Neurodevelopmental Disorder
Rocker bottom foot, Dystonia, Postaxial hand polydactyly, Hypsarrhythmia, Micrognathia, Low-set, ... ORPHA:521426
Lamb-Shaffer Syndrome
Hip dysplasia, Ataxia, Optic atrophy, Hyperactivity, Micrognathia ORPHA:530983
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Talipes calcaneovalgus, Intention tremor, Bradykinesia... OMIM:610217
Eiken Syndrome
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Broad fem... OMIM:600002
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hearing impairment, Optic atrophy, Hyperactivity ORPHA:369939
X-Linked Adrenoleukodystrophy
Dementia, Leg muscle stiffness, Gait disturbance, Hyperactivity, Cognitive impairment, Progressiv... ORPHA:43
2Q23.1 Microdeletion Syndrome
Hip dysplasia, Ataxia, Sandal gap, Hyperactivity, Clinodactyly of the 5th finger, Short palm ORPHA:228402
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Sensorineural hearing impairment, Ataxia, Hyperactivity ORPHA:760
Mental Retardation, Autosomal Recessive 38
Sandal gap, Unsteady gait, Hyperactivity OMIM:615516
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Tremor, Akinesia, Dementia, Pigmentary retinopathy, Gait disturbance, Blepharospasm, At... OMIM:234200
Sandhoff Disease
Orthostatic hypotension, Ataxia, Progressive psychomotor deterioration, Exaggerated startle respo... OMIM:268800
Chromosome 10Q26 Deletion Syndrome
Craniosynostosis, Atrial septal defect, Toe syndactyly, Radial deviation of finger, Clinodactyly,... OMIM:609625
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Hearing impairment, Dense calvaria, Hyperactivity OMIM:252900
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Long-segment aganglionic megacolon, Ataxia, Abnormal autono... OMIM:609136
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Hypoalbuminemia, Macrotia OMIM:614748
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Limitation of movement at ankles, Ataxia, EEG abnormality, EEG with abnormally slow frequ... ORPHA:98794
Cranioectodermal Dysplasia 1
Osteoporosis, Hypocalcemia, Short toe, Triphalangeal hallux, Broad toe, Rhizomelia, Short humerus... OMIM:218330
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Finger syndactyly, Low-set, posteriorly rotated ear... ORPHA:958
Gomez-Lopez-Hernandez Syndrome
Craniosynostosis, Ataxia, Posteriorly rotated ears, Hyperactivity, Cognitive impairment OMIM:601853
Gm1 Gangliosidosis Type 1
Broad metacarpals, Broad long bone diaphyses, Macrotia, Flared iliac wing, Flattened femoral head... ORPHA:79255
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Tay-Sachs Disease
Psychomotor deterioration, Cherry red spot of the macula, Dementia, Exaggerated startle response OMIM:272800
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Edema of the dorsum of ... OMIM:274000
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Optic atrophy, Pes cavus, Optic disc pallor OMIM:609541
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Fibular aplasia, Tarsal synostosis, Flared iliac wing, Abn... ORPHA:90652
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Hypoplastic inferior ilia, Bowing of the long bones, Tibial b... ORPHA:140
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Short toe, Short metatarsal, Short phalanx of finger, Absent/hypoplastic paranasal ... ORPHA:280651
13Q12.3 Microdeletion Syndrome
Hip dysplasia, Camptodactyly, Hemihypotrophy of lower limb, Hearing impairment, Hyperactivity ORPHA:412035
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Camptodactyly, Distally placed thumb, Posteriorly rotated ears, Pulmonic stenosi... OMIM:619148
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly, Hyperactivity OMIM:615824
Pitt-Hopkins-Like Syndrome 1
Progressive language deterioration, EEG abnormality, Ataxia, Hyperactivity OMIM:610042
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia, Coxa valga OMIM:164900
Joubert Syndrome 1
Chorioretinal coloboma, Postaxial hand polydactyly, Ataxia, Retinal dystrophy, Retinal dysplasia,... OMIM:213300
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Limb tremor, Oculogyric crisis, Torticollis, Exaggerated startle respons... OMIM:608643
Gm2-Gangliosidosis, Ab Variant
Dystonia, Dementia, Exaggerated startle response OMIM:272750
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Rhizomelia, Camptoda... OMIM:260660
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Ataxia, Posteriorly rotated ears, Hyperactivity, Clinodactyly of the 5th finger, Tapered finger, ... OMIM:618430
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Macrotia, Pes planus, Hyperactivity, Mitral valve prolapse, Diabetes mellitus, Attention deficit ... ORPHA:449291
Absent Achilles reflex, Decreased amplitude of sensory action potentials, Dilated cardiomyopathy,... ORPHA:2388
Helsmoortel-Van Der Aa Syndrome
Low-set, posteriorly rotated ears, Small hand, Abnormal heart morphology, Hyperactivity OMIM:615873
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Hyperactivity OMIM:300143
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Retinal dystrophy, Cupped ear, Reduced bone mineral density, Hearing ... OMIM:617052
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Broad thumb, Ventricular septal defect, Abnormally folded helix, Hyperactiv... OMIM:309520
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Aplasia/Hypoplasia of the radius, Ap... ORPHA:1788
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Palmoplantar hyperhidrosis, Postaxial polydactyly, Posteriorly rotated ears, ... OMIM:617527
Distal Trisomy 17Q
Genu valgum, Hand polydactyly, Overlapping toe, Abnormal heart morphology, Low-set, posteriorly r... ORPHA:3379
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Glycine Encephalopathy With Normal Serum Glycine
Overlapping toe, Genu recurvatum, Exaggerated startle response, Hand clenching, Talipes equinovar... OMIM:617301
Acrorenal-Mandibular Syndrome
Hypoplasia of the radius, Rudimentary fibula, Hand polydactyly, Toe syndactyly, Split hand, Hypop... OMIM:200980
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Broad distal phalanx of finger, Optic nerve hypoplasia, Long toe, Hyperactivity, Micrognathia, Lo... ORPHA:363686
Asparagine Synthetase Deficiency
Macrotia, Hypsarrhythmia, Long foot, Large hands, Exaggerated startle response, Micrognathia OMIM:615574
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Tibial Hemimelia
Absent tibia OMIM:275220
Maternal Phenylketonuria
Hypoplastic helices, Ventricular septal defect, Abnormal heart morphology, Clinodactyly, Double o... ORPHA:2209
Early Infantile Epileptic Encephalopathy
Dystonia, Episodic ataxia, EEG with spike-wave complexes, Uni- and bilateral multifocal epileptif... ORPHA:1934
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
2-3 toe syndactyly, Macrotia, Hyperactivity ORPHA:391307
16P11.2P12.2 Microdeletion Syndrome
Camptodactyly of finger, Toe syndactyly, Microretrognathia, Abnormality of the pinna, Hearing imp... ORPHA:261211
Angelman Syndrome
Progressive gait ataxia, Limb tremor, EEG abnormality, Hyperactivity, Broad-based gait OMIM:105830
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Intellectual Disability-Strabismus Syndrome
Rocker bottom foot, Atrial septal defect, Congenital finger flexion contractures, Macrotia, Gait ... ORPHA:363528
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Angelman Syndrome
Inability to walk, Tremor, Ataxia, Pes valgus, EEG abnormality, Hyperactivity, Optic atrophy, Opt... ORPHA:72
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Atrial septal defect, Overfolded helix, Ventricular septal defect, Conductive he... OMIM:300373
Brain-Lung-Thyroid Syndrome
Dystonia, Atrial septal defect, Ventricular septal defect, Intention tremor, Ataxia, Sensorineura... ORPHA:209905
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Osteoporosis, Dystonia, Atrial septal defect, Hip dysplasia, Abnormal heart mo... ORPHA:438213
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect, Short proximal phalanx of the 2nd finger, Camptodactyly, Clinodactyly, Hype... ORPHA:261323
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Fibular aplasia, Humero... ORPHA:2879
Distal Monosomy 12Q
Maturity-onset diabetes of the young, Overlapping toe, Micrognathia, Short middle phalanx of fing... ORPHA:96149
7Q11.23 Microduplication Syndrome
Atrial septal defect, Craniosynostosis, Large earlobe, Ventricular septal defect, Overfolded heli... ORPHA:96121
Hyperargininemia, Hyperammonemia, Spastic gait, Hyperactivity OMIM:207800
47,Xyy Syndrome
Finger clinodactyly, Congenital stationary night blindness, Attention deficit hyperactivity disor... ORPHA:8
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia ORPHA:1827
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Phocomelia, Femoral bowing, Hypoplasia of the radius, Long ear,... OMIM:276820
Glass Syndrome
Micrognathia, Camptodactyly, Hyperactivity, Talipes equinovarus, Arachnodactyly, Broad-based gait OMIM:612313
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowing OMIM:113470
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia, Ataxia, Broad-based gait ORPHA:438216
Hyperhistidinemia, Hyperactivity ORPHA:2157
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response, Diabetes mellitus OMIM:184850
Renal Dysplasia-Limb Defects Syndrome
Hypoplasia of the radius, Maternal diabetes, Fibular aplasia, Short sternum, Aplasia of the ulna,... OMIM:266910
Mucopolysaccharidosis, Type Iiid
Asymmetric septal hypertrophy, Hearing impairment, Hyperactivity OMIM:252940
Adenylosuccinase Deficiency
Inability to walk, Opisthotonus, Gait ataxia, Hyperactivity OMIM:103050
White-Sutton Syndrome
Abnormal heart morphology, Posteriorly rotated ears, Sensorineural hearing impairment, EEG abnorm... ORPHA:468678
Koolen-De Vries Syndrome
Hip dysplasia, Atrial septal defect, Ventricular septal defect, Overfolded helix, Macrotia, Posit... OMIM:610443
Dyrk1A-Related Intellectual Disability Syndrome
Toe syndactyly, Ventricular septal defect, Macrotia, Polydactyly, Gait disturbance, Structural fo... ORPHA:464306
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Abnormality of the pinna, Clinodactyly of the 5th finger, Macrotia, Hyperactivity OMIM:618505
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic scapulae, Hypoplastic ilia, Dumbbell-shaped long bone, ... ORPHA:3144
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Broad distal phalanx of finger, Atrial septal defect, Abnormal proximal phalanx morphology of the... ORPHA:353281
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydactyly, Finger syndactyly... ORPHA:2753
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Atrial septal defect, Myelofibrosis, Ventricular septal defect, Posteriorly rotated ears, Pulmoni... OMIM:607721
Hyperekplexia 1
Hip dislocation, Exaggerated startle response OMIM:149400
Brooks-Wisniewski-Brown syndrome
Posteriorly rotated ears, Cupped ear, Protruding ear, EEG abnormality, Hyperactivity, Optic atrop... OMIM:300612
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Postaxial foot polydac... OMIM:601027
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Small earlobe, Short metatarsal, Toe syndactyly, Overfolding of... OMIM:211910
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Craniosynostosis, Overlapping toe, Micrognathia, Camptodactyly, Short foot, Brachydactyly, Poster... OMIM:309590
Monosomy 9Q22.3
Cardiac fibroma, Plantar pits, Polydactyly, Thickened ears, Hyperactivity, Retinopathy ORPHA:77301
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Ventricular septal defect, Abnormal heart morphology, Low-set, posteriorly rotat... ORPHA:444077
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... OMIM:256800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal proximal phalanx morphology of the hand, Broad thumb, Polydactyly, Social and occupation... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal proximal phalanx morphology of the hand, Broad thumb, Polydactyly, Social and occupation... ORPHA:353277
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Coffin-Siris Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Hearing impairment, C... ORPHA:1465
Wiedemann-Steiner Syndrome
Rhizomelia, Psychomotor deterioration, Clinodactyly, Hyperactivity, Aplasia/Hypoplasia of the rib... ORPHA:319182
Witteveen-Kolk Syndrome
Toe syndactyly, Abnormality of finger, Abnormal thumb morphology, Macrotia, Microretrognathia, Sh... OMIM:613406
Rubinstein-Taybi Syndrome 1
Broad thumb, Flared iliac wing, Polydactyly, Pes planus, Radial deviation of thumb terminal phala... OMIM:180849
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hip dysplasia, Postaxial polydactyly, Broad hallux, Optic nerve hypoplasia, Hyperactivity, Clinod... ORPHA:457284
Tetrasomy 9P
Abnormal chorioretinal morphology, Pericarditis, Abnormal mitral valve morphology, Aplasia/Hypopl... ORPHA:3310
8Q24.3 Microdeletion Syndrome
Asymmetry of the ears, Congenital hip dislocation, Pes planus, Long toe, Hyperactivity, Hip dyspl... ORPHA:508488
Familial Gestational Hyperthyroidism