Gene Summary

AP2 associated kinase 1
D6Ertd245e,  5530400K14Rik

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
decreased grip strength Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 4.91×10-06
abnormal retina 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
increased circulating alanine transaminase level Aak1tm1b(EUCOMM)Hmgu HOM Early adult 5.01×10-05
hyperactivity Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 3.51×10-05
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
decreased startle reflex Aak1tm1b(EUCOMM)Hmgu HOM Early adult 5.19×10-07
decreased circulating cholesterol level Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 5.63×10-05
impaired glucose tolerance Aak1tm1b(EUCOMM)Hmgu HOM Early adult 8.41×10-05
increased vertical activity Aak1tm1b(EUCOMM)Hmgu HOM Early adult 4.49×10-13
abnormal bone structure Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 3.80×10-10
abnormal auditory brainstem response Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 4.27×10-16
short tibia Aak1tm1b(EUCOMM)Hmgu HOM Early adult 4.70×10-14
abnormal contextual conditioning behavior Aak1tm1b(EUCOMM)Hmgu HOM   Early adult 3.57×10-05
decreased circulating serum albumin level Aak1tm1b(EUCOMM)Hmgu HOM Early adult 4.81×10-05
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 Lateral Orientation

16 Images


XRay Images Whole Body Dorso Ventral

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, Steppage gait, Pes cavus, Hypoalbuminemia OMIM:607250
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cognitive impairment, Dystonia, Hypercholesterolemia, Dementia, Mental deterioration, Ataxia, Pes... OMIM:208920
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Ataxia, Steppage gait, Pes cavus, Hypoalbuminemia, Distal lower limb muscle... ORPHA:94124
Hyperlysinemia, Type I
Cognitive impairment, Hyperactivity, Hyperlysinemia OMIM:238700
Immunodeficiency 43
Hypoplasia of the ulna, Hypoproteinemia, Radial bowing, Hypoalbuminemia OMIM:241600
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Memory impairment, Hypercholesterolemia, Hyperactivity, Elevated... ORPHA:247585
Brachydactyly, Shortening of all distal phalanges of the fingers, Retinal degeneration, Low-set e... ORPHA:79320
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Chorioretinal coloboma, Clinodactyly of the 5th finger, Hypoproteinemia ORPHA:1116
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Elevated circulating transferrin concentration, Hypercholesterolemia, Osteoporosis, Hypoalbuminem... OMIM:616000
Lymphangiectasia, Intestinal
Pedal edema, Neonatal hypoproteinemia, Stillbirth OMIM:152800
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... OMIM:200700
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Short tibia, Incr... ORPHA:93323
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
Sensorineural hearing impairment, Hypoproteinemia OMIM:221400
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Absent ossification of calv... OMIM:601376
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Osteopenia, Intention tremor OMIM:610539
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Primary Membranoproliferative Glomerulonephritis
Drusen, Hypoalbuminemia ORPHA:54370
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Ataxia, Increased to... OMIM:267700
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Dystonia, Hypercholesterolemia, Head tremor, Ataxia, Elevated circula... ORPHA:64753
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
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Hypoalbuminemia OMIM:617156
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
EEG with focal epileptiform discharges, Aplasia/hypoplasia involving bones of the extremities, Te... ORPHA:356961
Insulin-Like Growth Factor I Deficiency
Clinodactyly, Osteopenia, Sensorineural hearing impairment, Hyperactivity, Micrognathia, Radial d... OMIM:608747
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Nephrotic Syndrome, Type 11
Clinodactyly, Dilated cardiomyopathy, Hypercholesterolemia, Partial duplication of thumb phalanx,... OMIM:616730
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Patent foramen ovale, Atrial septal defect, Hypocalcemia... ORPHA:26793
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 14
Hypoglycemia, Sensorineural hearing impairment, Mental deterioration, Ataxia, Hypoalbuminemia, Hy... OMIM:617575
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Osteoporosis, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Pedal edema, Hypoalbuminemia, Increased al... ORPHA:86816
Congenital Disorder Of Glycosylation, Type Ih
Low-set ears, Talipes equinovarus, Abnormal heart morphology, Hypoalbuminemia, Camptodactyly, Abn... OMIM:608104
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Mental deterioration, Ataxia, Hypertriglyceridemia, Tremor OMIM:615924
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Clubbing, Clubbing of fingers, Hypoproteinemia, Hypoalbuminemia OMIM:226300
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Johanson-Blizzard Syndrome
Hypoproteinemia, Sensorineural hearing impairment, Dextrocardia, Diabetes mellitus, Abnormal card... ORPHA:2315
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Broad-based gait, Hypoalbuminemia OMIM:618805
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale, Short ribs, Sensorineural hearing impairment, Hypocalcemia, Sandal gap, Rhi... OMIM:607143
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Osteoporosis, Diabetes mellitus, Hypertriglyceridemia, Gluc... OMIM:610947
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Dysmetria, Type I diabetes mellitus, Spastic gait, Sensorineural hearing im... ORPHA:96180
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Fibronectin Glomerulopathy
Pedal edema, Hypoalbuminemia ORPHA:84090
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Ankle clonus, Dystonia, Generalized dystonia, Foc... ORPHA:52368
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Increased circulating farnesol concentrat... OMIM:618156
Potocki-Lupski Syndrome
EEG abnormality, Patent foramen ovale, Atrial septal defect, Hyperactivity, Micrognathia, Hypocho... OMIM:610883
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Cognitive impairment... ORPHA:167
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Ataxia, Hypertriglyc... OMIM:603553
Nephrotic Syndrome, Type 8
Sensorineural hearing impairment, Hypoalbuminemia OMIM:615244
Abnormal heart morphology, Cardiomyopathy, Hypoalbuminemia ORPHA:79327
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Clubbing, Hyperostosis, Hypoalbuminemia, Periostosis OMIM:614441
Peroxisome Biogenesis Disorder 3B
Sensorineural hearing impairment, Osteoporosis, Rod-cone dystrophy, Retinal dystrophy, Hypocholes... OMIM:266510
Galloway-Mowat Syndrome 6
Clinodactyly of the 5th finger, Hypoalbuminemia OMIM:618347
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Low-set ears, Hypocalcemia, Micrognathia, Postaxial hand polydactyly, Ventricula... OMIM:235255
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Pericardial effusion ORPHA:90362
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Short palm, Low-set ears, Coronal craniosynostosis, Atrial septal defect, Conductive hearing impa... OMIM:235510
Omenn Syndrome
Hypoproteinemia OMIM:603554
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, EEG abnormality, Ataxia OMIM:239500
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Dengue Fever
Hypoproteinemia ORPHA:99828
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Immunodeficiency 27A
Hypoalbuminemia, Hypoplasia of the femoral head OMIM:209950
Hypopigmentation of the fundus, Pes cavus, Hyperbilirubinemia, Cardiomegaly, Decreased HDL choles... ORPHA:14
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Combined Oxidative Phosphorylation Deficiency 37
Chorioretinal hyperpigmentation, Hypoglycemia, Optic atrophy, Sensorineural hearing impairment, H... OMIM:618329
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity, Tal... OMIM:601382
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Stuve-Wiedemann Syndrome 1
Talipes, Osteoporosis, Micrognathia, Short tibia, Bowing of the long bones, Metaphyseal rarefacti... OMIM:601559
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Hyperphosphatasia With Mental Retardation Syndrome 6
Large earlobe, Clinodactyly, Shortening of all distal phalanges of the fingers, Osteopenia, 2-3 t... OMIM:616809
Wolcott-Rallison Syndrome
Hyponatremia, Atrial septal defect, Double outlet right ventricle, Hyperbilirubinemia, Neonatal i... ORPHA:1667
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Low-set ears, Hypocalcemia, Micrognathia, Postaxial hand polydactyly, Ventricula... ORPHA:1655
Short long bone, Hyponatremia, Patent foramen ovale, Sensorineural hearing impairment, Sandal gap... ORPHA:79324
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Ataxia, Rod-cone dystrophy, Cardiomyopathy, Macrotia, Hypoalbuminemia, Hypocholestero... OMIM:212065
Mucopolysaccharidosis-Plus Syndrome
Clubbing, Flared iliac wing, Atrial septal defect, Hypertrophic cardiomyopathy, Inability to walk... OMIM:617303
Hyperlysinemia, Cognitive impairment, Abnormality of circulating enzyme level, Elevated plasma ci... ORPHA:3124
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Pes planus, Hypermethioninemia, Elevated circulating creatine kinase concent... ORPHA:88618
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, Ab... ORPHA:2298
Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Ataxia, Pes cavus, Absent Achilles ... ORPHA:1215
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoalbuminemia, Hypernatr... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoalbumin... ORPHA:529808
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Short femur, Aplasia/Hypop... OMIM:612447
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Low-set ears, Fibular hypoplasia, 11 pairs of ribs, Triphalangeal thumb, Oligodacty... OMIM:201170
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Preaxial polydactyly, Mesomelic leg shortening, Oligodactyly, Micr... ORPHA:2756
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Aicardi-Goutieres Syndrome 9
Dystonia, Osteoporosis, Chorioretinal atrophy, Hypoalbuminemia, Pericarditis, Left ventricular hy... OMIM:619487
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly, EEG with focal spikes, Hypoalbuminemia ORPHA:255249
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Gait d... OMIM:125250
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... ORPHA:79106
Hypoalbuminemia ORPHA:507
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Facial palsy, Ankle flexion contracture, Absen... OMIM:617519
Severe Neurodegenerative Syndrome With Lipodystrophy
Cognitive impairment, Insulin resistance, Hyperinsulinemia, Hyperactivity, Ataxia, Limb dystonia,... ORPHA:363400
Intellectual Developmental Disorder, X-Linked 101
Clinodactyly, Hyperactivity, Optic atrophy, Macrotia OMIM:300928
Optic Atrophy 8
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonged somatosensory ev... OMIM:616648
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Steatorrhea ORPHA:2070
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Ataxia, Abnorma... ORPHA:320401
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... ORPHA:158061
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Mental deterioration, Ataxia, Decreased nerve con... ORPHA:206443
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Talipes equinovalgus, Short ti... OMIM:605274
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Abnormal cardiac atrium morphology, Hypertrophic card... ORPHA:85443
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Hypoalbu... OMIM:619055
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:616834
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Smith-Magenis syndrome
Brachydactyly, Hyperactivity DECIPHER:8
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Hypoalbuminemia, Pericardial effusion, Hyperammonemia ORPHA:292
Galloway-Mowat Syndrome 1
Slender finger, Dystonia, Low-set ears, Ataxia, Micrognathia, Pes cavus, Talipes equinovarus, Han... OMIM:251300
Pierson Syndrome
Hypoproteinemia, Retinal hemorrhage, Hypopigmentation of the fundus, Retinal detachment, Remnants... OMIM:609049
Hepatoportal Sclerosis
Cognitive impairment, Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Smith-Magenis Syndrome
Brachydactyly, EEG abnormality, Short palm, Hypercholesterolemia, Pes planus, Hyperactivity, Reti... OMIM:182290
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity, Optic atrophy, Tremor OMIM:300983
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Abnormal cardiomyocyte morphology, Hypoalbuminemia ORPHA:367
Microcephaly-Micromelia Syndrome
Craniosynostosis, Absent radius, Low-set ears, Oligodactyly, Micrognathia, Micromelia, Short tibi... OMIM:251230
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly, Hypoglycemia, Insulin resistance, Prelingual sensorineural hearing impairment, Sens... ORPHA:73272
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Dystonia, Hyperactivity, Ataxia, Hypervalinemia, Elevated circulating creatine ki... OMIM:615673
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypoalbuminemia, Sensorineural hearing impairment, ... ORPHA:540
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Small hand, Talipes equinovarus, Short foot, Hip dislocation OMIM:300434
Abcd Syndrome
Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Aganglionic megacolon, Heari... OMIM:600501
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Pedal edema, Abnormal circulating protein concentrati... ORPHA:86839
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy, Broad-based gait, Tremor OMIM:619470
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Xfe Progeroid Syndrome
Optic atrophy, Pes cavus, Hypoalbuminemia, Attenuation of retinal blood vessels, Hearing impairment OMIM:610965
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Dystonia, Hyperactivity, Ataxia, Tremor OMIM:612716
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Total anomalous pulmonary venous return, Fibular hypoplasia, Mesomelic leg shortening, Micrognath... OMIM:609945
Glycine Encephalopathy
Hyperglycinemia, Hyperactivity OMIM:605899
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Clinodactyly of the 5th finger, Hyperactivity, Tapered finger, Gait ataxia, Long fi... OMIM:609425
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Low-set ears, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia, ... OMIM:618183
Landau-Kleffner Syndrome
Memory impairment, Hyperactivity, EEG with generalized epileptiform discharges, Interictal EEG ab... ORPHA:98818
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Low-set ears, Hand polydactyly, Mi... OMIM:258860
Coffin-Siris Syndrome 7
Brachydactyly, Clinodactyly, Low-set ears, Hyperactivity, Abnormal heart morphology, Posteriorly ... OMIM:618027
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly, Retinal coloboma OMIM:258865
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Hyperactivity ORPHA:75858
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Hyperactivity, Mental deterioration, Falls ORPHA:2382
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Hypocholesterolemia, Hypertrophic cardiomyopathy, Micrognathia OMIM:618810
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Patent foramen ovale, Atrial septal defect, Abnormality of retinal pigmentation, Hypertrophic car... ORPHA:505248
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Cognitive impairment, Low-set ears, Hypermethioninemia, Microtia, Pulmonic s... OMIM:222470
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Irregular epiphyses, Retinal degeneration, Sensorineural hearing impairment, Ataxia, Geographic a... OMIM:619260
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Microg... ORPHA:1106
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Hyperactivity, Inability to walk, Gait disturbance, Tremor OMIM:618090
Rasmussen Subacute Encephalitis
EEG with focal epileptiform discharges, EEG with focal sharp slow waves, Cognitive impairment, In... ORPHA:1929
Cerebrotendinous Xanthomatosis
Cognitive impairment, Dystonia, Osteoporosis, Pes cavus, Hypermyelinated retinal nerve fibers, Ab... ORPHA:909
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Abnormal pericardium morphology, Hypoalbuminemia ORPHA:67
Galloway-Mowat Syndrome 3
Low-set ears, Micrognathia, Arachnodactyly, Hypoalbuminemia, Camptodactyly, Hip dislocation OMIM:617729
Charcot-Marie-Tooth Disease, Type 4D
Talipes cavus equinovarus, Decreased nerve conduction velocity, Abnormal auditory evoked potentia... OMIM:601455
Acrocraniofacial Dysostosis
Craniosynostosis, Conductive hearing impairment, Sensorineural hearing impairment, Micrognathia, ... OMIM:201050
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:600081
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia, Rickets, Steatorrhea OMIM:607765
Cln5 Disease
EEG with generalized slow activity, Dysmetria, Hyperactivity, Inability to walk, Mental deteriora... ORPHA:228360
Dyschondrosteosis And Nephritis
Ulnar bowing, Radial bowing, Short tibia, Short forearm OMIM:127350
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypocalcemia, Myocarditis, Elevated circulating cr... ORPHA:36234
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Pes cavus, Decreased motor nerve conduction velocity, Prolonge... OMIM:601596
Primary Biliary Cholangitis
Orthostatic hypotension, Abnormal circulating lipid concentration, Osteoporosis, Conjugated hyper... ORPHA:186
Charcot-Marie-Tooth Disease Type 1F
Cognitive impairment, Hand tremor, Proximal lower limb amyotrophy, Sensorineural hearing impairme... ORPHA:101085
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Increased circulating ferritin concentration, Absent brainstem auditory res... ORPHA:3240
Juvenile Polyposis Of Infancy
Low-set ears, Atrial septal defect, Midclavicular hypoplasia, Abnormal heart morphology, Hypoalbu... ORPHA:79076
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, Dystonia, Hyperactivity, EEG with generalized epileptifor... ORPHA:88616
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Intellectual Developmental Disorder, Autosomal Recessive 61
EEG abnormality, Low-set ears, Hyperactivity, Tapered finger, Pes cavus, Posteriorly rotated ears... OMIM:617773
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Tetralogy of Fallot, Hypoplastic pubic bone, Short long b... OMIM:617925
Mend Syndrome
2-3 toe syndactyly, Low-set ears, Elevated 8-dehydrocholesterol, Overlapping fingers, Hyperactivi... ORPHA:401973
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Hammertoe, Short thumb, Micrognathia, Micromelia, Ventricular sept... OMIM:270400
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Low-set ears, Preaxial foot polydactyly, Short femu... ORPHA:1988
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Action tremor... ORPHA:99027
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Mitten deformity, Dilated cardiomyopathy, Decreased serum zinc, Decreased serum iron, Decreased p... ORPHA:89842
8p23.1 deletion syndrome
Atrial septal defect, Abnormal heart morphology, Hyperactivity, Atrioventricular canal defect DECIPHER:39
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Hyperuricemia, Diabetes mellitus, Hypert... ORPHA:90041
Juvenile Huntington Disease
Dystonia, Dementia, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Broad-base... ORPHA:248111
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Intellectual Developmental Disorder, Autosomal Recessive 74
Brachydactyly, Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Chylomicron Retention Disease
Retinopathy, Hypocholesterolemia, Steatorrhea ORPHA:71
Attention deficit hyperactivity disorder, Hyperactivity, Maternal hyperphenylalaninemia, Hyperphe... OMIM:261600
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated circulating gamma-aminobutyric acid concentration, Hyperactivity, EEG abnormality, Ataxia OMIM:271980
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Secondary hyperaldosteronism, Hypoalbuminemia, Reduced circulating tra... ORPHA:90363
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Kaufman Oculocerebrofacial Syndrome
Low-set ears, Atrial septal defect, Clinodactyly of the 5th finger, Congenital hip dislocation, M... OMIM:244450
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia, Macrotia, Facial diplegia, Optic atrophy, Hearing impairment OMIM:617302
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Ataxia, Hypertriglyceridemia ORPHA:158048
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Metaphyseal spurs, Micrognathia, Hypoplastic iliac ... ORPHA:96334
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Type I diabetes ... ORPHA:37042
Adult Krabbe Disease
EEG abnormality, Mental deterioration, Ataxia, Pes cavus, Prolonged brainstem auditory evoked pot... ORPHA:206448
Juvenile Polyposis Syndrome
Clubbing, Hypokalemia, Hypoalbuminemia OMIM:174900
Robin Sequence With Cleft Mandible And Limb Anomalies
Low-set ears, Fibular hypoplasia, Short metacarpal, Clinodactyly of the 5th finger, Tibial deviat... OMIM:268305
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity, Retinal degeneration, EEG with series of focal spikes, Dement... ORPHA:168491
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Hypoc... OMIM:264700
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated circulating creatinine concentration, Broad first metatarsal, Dextrocardia, Hyperbilirub... OMIM:619534
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad first metatarsal, Y-shaped metacarpals, Conductive hearing impairment, C... ORPHA:2751
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Attention deficit hyperactivity diso... OMIM:301008
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Increased blood urea nitrogen, Ataxia, Pigmentary ... ORPHA:90321
Ck Syndrome
Hyperactivity, Micrognathia, Posteriorly rotated ears, Abnormal digit morphology, Abnormal cortic... OMIM:300831
Multiple Myeloma
Hyperproteinemia, Osteopenia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Cupped ear, Aplasia of the 3rd finger, Absent tibia, Short hallux, Aplasia/Hypoplasia of the ulna... OMIM:119100
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pedal edema, Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
19P13.12 Microdeletion Syndrome
Craniosynostosis, Hyperlipidemia, Toe clinodactyly, Low-set ears, Finger syndactyly, Short palm, ... ORPHA:254346
Myoclonic-Astatic Epilepsy
EEG with generalized slow activity, Interictal epileptiform activity, EEG with irregular generali... ORPHA:1942
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachydactyly, Disproportionate shortening of the tibia, Short ribs, Atrial septal defect, Postax... OMIM:263520
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Hepatocellular Carcinoma
Hypokalemia, Hypoglycemia, Hyponatremia, Hypercalcemia, Pedal edema, Hyperbilirubinemia, Hypoalbu... ORPHA:88673
Tay-Sachs Disease
Ankle clonus, Cherry red spot of the macula, Dysmetria, Dystonia, Memory impairment, Increased se... ORPHA:845
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
EEG abnormality, Low-set ears, Hyperactivity, Inability to walk, Tremor OMIM:618718
Mend Syndrome
2-3 toe syndactyly, Low-set ears, Overlapping fingers, Hyperactivity, Polydactyly, Long fingers, ... OMIM:300960
Rubinstein-Taybi Syndrome 2
Hyperactivity, Broad hallux, Micrognathia, Broad thumb, Posterior helix pit, Syndactyly OMIM:613684
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:300554
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Myocardial fibrosis, Atrial septal defect, Retinal detachment, Retinal dy... OMIM:253800
Laurin-Sandrow Syndrome
Toe syndactyly, Talipes, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly... ORPHA:2378
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Sensorineural hearing impairment, Subvalvular aortic stenosis, Short phalanx of... OMIM:600430
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Absent thumb, Atrial septal defect, Hyperactivity, Pulmonic stenosis, EEG with burst suppression,... OMIM:619239
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Osteopenia, Hypocalcemia, Thin bony cortex, Hypoalbuminemia, Reduced bone mineral d... OMIM:613658
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Clinodactyly, Low-set ears, Pes planus, Sandal gap, Hyperactivity, Tapered finger, Microtia, Post... OMIM:618089
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Palmoplantar keratoderma, Craniosynostosis, Hypoalbuminemia ORPHA:79396
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Acrodysostosis 2 With Or Without Hormone Resistance
Brachydactyly, Short metacarpal, Cone-shaped epiphysis, Short phalanx of finger, Hyperactivity, D... OMIM:614613
Omodysplasia 1
Fibular hypoplasia, Rhizomelia, Atrial septal defect, Increased fibular diameter, Limited knee fl... OMIM:258315
Atelosteogenesis Type Iii
Vertebral hypoplasia, Absent humerus, Absent radius, Epiphyseal stippling of the humerus, Microgn... ORPHA:56305
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Bilateral talipes equinovarus, Patellar hypoplasia, Low-set ears, Absent tibia, Talipes equinovar... OMIM:119800
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal pelvis bone morphology, Broad femoral neck, Genu valgum, W... ORPHA:239
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Coxa valga, Hip dislocation OMIM:109120
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Hyperactivity, Macrotia, Hallux valgus OMIM:615541
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Shuffling gait, Hyperactivity, Focal EEG discharges with secondary generalization... ORPHA:3077
X-Linked Cerebral Adrenoleukodystrophy
Dysmetria, Memory impairment, Decreased circulating cortisol level, Hyperactivity, Mental deterio... ORPHA:139396
Arthrogryposis, Distal, Type 2A
Hearing impairment, Rocker bottom foot, Knee flexion contracture, Abnormal auditory evoked potent... OMIM:193700
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Tetralogy of Fallot, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Sensor... ORPHA:3320
Infantile Neuroaxonal Dystrophy
Dystonia, Psychomotor deterioration, Hyperactivity, Mental deterioration, Abnormal autonomic nerv... ORPHA:35069
Primary Sclerosing Cholangitis
Osteopenia, Osteoporosis, Type I diabetes mellitus, Hypoalbuminemia ORPHA:171
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the 2nd toe, Hyperactivity, Cone-shaped epiphyses of the 3rd toe, Cone-s... ORPHA:397973
Dent Disease 1
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Glyco... OMIM:300009
Infantile Krabbe Disease
Cherry red spot of the macula, Opisthotonus, Psychomotor deterioration, Mental deterioration, Dec... ORPHA:206436
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Short ribs, Absent ti... OMIM:613091
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Brachydactyly, Pes planus, Sandal gap, Hyperactivity, Pes cavus, Gait ataxia, Small hand, Short f... OMIM:300354
Glycosuria, Retinopathy, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Elevated hem... ORPHA:552
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, ... OMIM:227270
X-Linked Creatine Transporter Deficiency
Dystonia, Abnormal circulating creatine concentration, Hyperactivity, Aganglionic megacolon, Athe... ORPHA:52503
Marburg Hemorrhagic Fever
Hypokalemia, Hypoglycemia, Elevated circulating creatinine concentration, Hyperamylasemia, Elevat... ORPHA:99826
Seckel Syndrome 10
Glycosuria, Slender long bone, Insulin resistance, Cone-shaped epiphysis, Retinal detachment, Ele... OMIM:617253
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, EEG abnormality, Patent foramen ovale, Low-set ears, Abnormal foot morphology, Hype... ORPHA:369891
16P12.1P12.3 Triplication Syndrome
Large earlobe, Brachydactyly, 2-3 toe syndactyly, Low-set ears, Abnormal tricuspid valve morpholo... ORPHA:485405
Optic neuritis, Chorioretinitis, Retinal hemorrhage, Papilledema, Pericarditis, Macular cotton wo... ORPHA:509
Tangier Disease
Left ventricular hypertrophy, Coronary artery stenosis, Hypertriglyceridemia, Hypocholesterolemia... ORPHA:31150
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Dense calvaria, Asymmetric septal hypertrophy, Progressive neurologic deterioratio... OMIM:252920
Spastic Paraplegia 29, Autosomal Dominant
Pes cavus, Neonatal hyperbilirubinemia, Hyperactivity, Sensorineural hearing impairment OMIM:609727
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Irregular metacarpals, Short ribs, Conductive he... OMIM:304120
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Motor deterioration, Dense calvaria, Asymmetric septal hypertrophy, Rod-cone dystr... OMIM:252930
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Pes cavus, Absent Achilles reflex, Optic disc pallor, Exaggerated startle resp... OMIM:609541
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, EEG abnormality, Ataxia, Broad-based gait ORPHA:411515
Juvenile Polyposis Syndrome
Clubbing of fingers, Hypoproteinemia, Low-set ears ORPHA:2929
Cockayne Syndrome A
Square pelvis bone, Ivory epiphyses of the phalanges of the hand, Sensorineural hearing impairmen... OMIM:216400
19P13.3 Microduplication Syndrome
Clinodactyly, Low-set ears, Hyperactivity, Microtia, Osteoporosis, Micrognathia, Pes cavus, Long ... ORPHA:447980
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Abnormal cardiac septum morphology, Dextrocardia, Long fingers, Attention deficit ... OMIM:614294
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... ORPHA:988
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with generalized slow activity, Interictal epileptiform activity, Progressive language deteri... ORPHA:163681
Fragile X Syndrome
Pes planus, Hyperactivity, Metacarpophalangeal joint hyperextensibility, Macrotia, Mitral valve p... OMIM:300624
Inverted Duplicated Chromosome 15 Syndrome
Brachydactyly, Tetralogy of Fallot, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Hyperacti... ORPHA:3306
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
EEG abnormality, Dystonia, Hyperactivity, Inability to walk, Gait ataxia ORPHA:500180
Trisomy 10P
Low-set ears, Flexion contracture of thumb, Abnormal foot morphology, Micrognathia, EEG with burs... ORPHA:171929
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
X-Linked Intellectual Disability, Cabezas Type
Toe syndactyly, EEG abnormality, Camptodactyly of finger, Short palm, Sandal gap, Clinodactyly of... ORPHA:85293
Intellectual Disability, Birk-Barel Type
Contractures involving the joints of the feet, Hyperactivity, Fatiguable weakness of proximal lim... ORPHA:166108
Microphthalmia With Limb Anomalies
Toe syndactyly, Hand oligodactyly, Low-set ears, Fibular hypoplasia, Postaxial foot polydactyly, ... OMIM:206920
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Macrotia, Ventricular septal defect, Attention deficit hyperactivity disorder OMIM:618504
Occipital Horn Syndrome
Pes planus, Osteoporosis, Osteomalacia, Genu valgum, Hip dysplasia, Rickets, Hip dislocation, Bra... ORPHA:198
Stankiewicz-Isidor Syndrome
Absent thumb, 2-3 toe syndactyly, Low-set ears, Hyperactivity, Short thumb, Micrognathia, Abnorma... OMIM:617516
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Pigmentary retinopathy, Cardi... ORPHA:581
Atelosteogenesis, Type I
Vertebral hypoplasia, Talipes, 11 pairs of ribs, Micrognathia, Brachydactyly, Short humerus, Club... OMIM:108720
Fibrochondrogenesis 1
Hypoplastic ischia, Short palm, Low-set ears, Fibular hypoplasia, Posterior vertebral hypoplasia,... OMIM:228520
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia, Hyperactivity OMIM:618314
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Hyporeflexia of lower limbs, Pes cavus, Optic disc pallor, Exaggerated startle response, Difficul... ORPHA:320406
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Myocardial calcification, Pedal edema, Restrictive cardiomyopathy, Endo... ORPHA:75565
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Seckel Syndrome 1
Hypoplasia of proximal radius, Talipes, Low-set ears, Pes planus, 11 pairs of ribs, Sandal gap, C... OMIM:210600
Hyperlysinemia, Opisthotonus, Dysmetria, Craniosynostosis, Hypoplasia of the antihelix, Hyperacti... ORPHA:2203
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, Hypoplasia of the ulna, Foot polyda... OMIM:208500
Cardiomegaly, Dystonia, Atrial septal defect, Sensorineural hearing impairment, Overlapping finge... ORPHA:79330
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Genu varum, Craniosynostosis, Abnormal trabecular bone morphology, Increased bo... ORPHA:289176
Tibia, Absence Of, With Congenital Deafness
Hearing impairment, Absent tibia OMIM:275230
Cockayne Syndrome B
Square pelvis bone, Ivory epiphyses of the phalanges of the hand, Sensorineural hearing impairmen... OMIM:133540
Mucopolysaccharidosis Type 2
Cognitive impairment, Abnormal mitral valve morphology, Papilledema, Otosclerosis, Hip dysplasia,... ORPHA:580
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Micrognathia, Hip dysplasia, Optic atrophy ORPHA:530983
Eiken Syndrome
Clinodactyly, Flattened epiphysis, Delayed ossification of carpal bones, Type A1 brachydactyly, F... OMIM:600002
X-Linked Adrenoleukodystrophy
Progressive hearing impairment, Leg muscle stiffness, Cognitive impairment, Dementia, Hyperactivi... ORPHA:43
Chromosome 10Q26 Deletion Syndrome
Clinodactyly, Toe syndactyly, Craniosynostosis, Low-set ears, Atrial septal defect, Sensorineural... OMIM:609625
Legius Syndrome
Cognitive impairment, Dystonia, Hearing impairment, Clinodactyly of the 5th finger, Hyperactivity... ORPHA:137605
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Low-set, posteriorly rotated ears, Exaggerated startle response, Overlapping toe, Ankle c... OMIM:618598
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Low-set ears, Upper limb undergrowth, Duplication of phal... OMIM:236680
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Hyperactivity, Macrotia, Abnormality of superior crus of antihelix, Atte... OMIM:301013
Osteopenia, Insulin resistance, Hyperinsulinemia, Pes planus, Hypertrophic cardiomyopathy, Osteop... ORPHA:79318
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Hyperactivity, Ataxia, Hypouricemia ORPHA:760
Stiff Person Spectrum Disorder
Falls, Diabetes mellitus, Difficulty walking, Exaggerated startle response ORPHA:3198
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Short long bone, Low-set ears, Hypoplastic vertebral bodies, Flare... ORPHA:79255
Neurodegeneration With Brain Iron Accumulation 2B
Talipes calcaneovalgus, Dysmetria, Dystonia, Intention tremor, Hyperactivity, Mental deterioratio... OMIM:610217
Cranioectodermal Dysplasia 1
Brachydactyly, Clinodactyly, Flattened epiphysis, Broad toe, Broad distal phalanges of all finger... OMIM:218330
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, EEG abnormality, Hyperactivity, Ataxia, EEG with abnormally slo... ORPHA:98794
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, EEG abnormality, Ataxia, Progressive language deterioration OMIM:610042
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Cholesteatoma, Osteomalacia, Hypoalbuminem... OMIM:619381
Sandhoff Disease
Cherry red spot of the macula, Orthostatic hypotension, Ataxia, Progressive psychomotor deteriora... OMIM:268800
Tay-Sachs Disease
Cherry red spot of the macula, Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Postaxial foot polydactyly, Rocker bottom foot, Sensorineural hearing impairment, Edema... ORPHA:521426
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervous system physio... OMIM:609136
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Macrotia, Hypoalbuminemia OMIM:614748
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Hypoplasia o... ORPHA:958
Charge Syndrome
Dysplastic tricuspid valve, Aplasia of the semicircular canal, Short thumb, Micrognathia, Double ... OMIM:214800
Campomelic Dysplasia
Narrow iliac wing, Absent sternal ossification, Fibular hypoplasia, Pes planus, 11 pairs of ribs,... OMIM:114290
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Cognitive impairment, Dystonia, Exaggerated startle response ORPHA:309246
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Low-set ears, Fibular hypoplasia, Poorly oss... ORPHA:140
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Hyperactivity, Dense calvaria, Hearing impairment OMIM:252900
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Hyperactivity, Dystonia, Athetosis ORPHA:382
Ophthalmomandibulomelic Dysplasia
Coxa valga, Fibular hypoplasia, Ulnar deviated club hands, Lateral humeral condyle aplasia, Radia... OMIM:164900
Acrodysostosis With Multiple Hormone Resistance
Brachydactyly, Hypoplastic vertebral bodies, Short metacarpal, Hypocalcemia, Cone-shaped epiphysi... ORPHA:280651
Chromosome 13Q33-Q34 Deletion Syndrome
Cutaneous syndactyly, Hyperactivity, Tapered finger, Short thumb, Micrognathia, Pulmonic stenosis... OMIM:619148
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Overlapping toe, Hand clenching, Genu recurvatum, Exaggerated startle response, Tal... OMIM:617301
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cognitive impairment, Palmoplantar hyperhidrosis, Low-set ears, Postaxial polydactyly, Rocker bot... OMIM:617527
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Retinal degeneration, Blepharospasm, Dementia, Abnormal foot morphology, Mental deterio... OMIM:234200
Bone Marrow Failure Syndrome 3
Cupped ear, Hyperactivity, Congenital hip dislocation, Micrognathia, Metaphyseal dysplasia, Reduc... OMIM:617052
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low-set ears, Atrial septal defect, Hyperactivity, Micrognathia, Arachnodactyly, Abnormally folde... OMIM:309520
Distal Trisomy 17Q
Rhizomelia, Hyperactivity, Hand polydactyly, Micrognathia, Low-set, posteriorly rotated ears, Pes... ORPHA:3379
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Pes planus, Hyperactivity, Macrotia, Diabetes mellitus, Mitral valve prolapse, Attention deficit ... ORPHA:449291
Asparagine Synthetase Deficiency
Long foot, Micrognathia, Macrotia, Exaggerated startle response, Large hands, Hypsarrhythmia OMIM:615574
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Fibular hypop... ORPHA:1788
Joubert Syndrome 1
Clinodactyly, Chorioretinal coloboma, Postaxial foot polydactyly, Low-set ears, Hyperactivity, Re... OMIM:213300
Maternal Phenylketonuria
Brachydactyly, Clinodactyly, Tetralogy of Fallot, Bifid distal phalanx of the thumb, Hyperactivit... ORPHA:2209
Early Infantile Epileptic Encephalopathy
Episodic ataxia, EEG abnormality, Dystonia, Uni- and bilateral multifocal epileptiform discharges... ORPHA:1934
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Toe syndactyly, Missing ribs, Foot polydactyly, Hypoplasia of the ulna, Low-s... OMIM:200980
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Brachymesomelia-Renal Syndrome
Low-set ears, Fibular hypoplasia, Hypoplasia of the radius, Micrognathia, Ulnar bowing, Mesomelic... OMIM:113470
47,Xyy Syndrome
Low-set ears, Hyperactivity, Congenital stationary night blindness, Finger clinodactyly, Attentio... ORPHA:8
Dilated cardiomyopathy, Resting tremor, Hyperactivity, Falls, Blepharospasm, Decreased amplitude ... ORPHA:2388
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Tibial Hemimelia
Absent tibia OMIM:275220
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Brain-Lung-Thyroid Syndrome
Dystonia, Patent foramen ovale, Intention tremor, Atrial septal defect, Sensorineural hearing imp... ORPHA:209905
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Fibular hypoplasia, Paranasal sinus hypoplasia, Conductive hearing impairment, Clin... OMIM:300373
Distal Monosomy 12Q
Pes valgus, Long foot, Congenital hypertrophy of left ventricle, 2-3 toe syndactyly, Low-set ears... ORPHA:96149
Hyperactivity, Hyperargininemia, Hyperammonemia, Spastic gait OMIM:207800
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Patent foramen ovale, Osteopenia, Decreased serum iron, Atrial septal defect, Inability... ORPHA:438213
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Cognitive impairment, Dystonia, EEG abnormality, Hyperbilirubinemia, Ventricular septal defect, P... OMIM:619475
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Decreased calvarial ossification, Aplasia/Hypoplasia involving the carpal bones, Aplasia of the u... OMIM:276820
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, External ear malformation, Exaggerated startle response, Broad-based gait ORPHA:438216
Gm2-Gangliosidosis, Ab Variant
Dementia, Dystonia, Exaggerated startle response OMIM:272750
Hyperactivity, Hyperhistidinemia ORPHA:2157
Stiff-Person Syndrome
Opisthotonus, Diabetes mellitus, Exaggerated startle response OMIM:184850
Acromelic Frontonasal Dysplasia
Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly ORPHA:1827
Dyrk1A-Related Intellectual Disability Syndrome
Acromesomelia, Toe syndactyly, Structural foot deformity, Clinodactyly of the 5th finger, Hyperac... ORPHA:464306
Brooks-Wisniewski-Brown syndrome
EEG abnormality, Cupped ear, Low-set ears, Hyperactivity, Tapered finger, Posteriorly rotated ear... OMIM:300612
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Retinopathy, EEG abnormality, Atrial septal defect, Conductive hearing impairment, Sensorineural ... ORPHA:353281
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Small earlobe, Low-set ears, Atrial septal defect, Clinodactyly of the 5th finger, Tap... OMIM:619522
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Brachydactyly, Clinodactyly, Cupped ear, Craniosynostosis, Low-set ears, Hyperactivity, Tapered f... OMIM:309590
Hyperekplexia 1
Hip dislocation, Exaggerated startle response OMIM:149400
Orofaciodigital Syndrome Type 4
Genu varum, Finger syndactyly, Low-set ears, Conductive hearing impairment, Aplasia/Hypoplasia of... ORPHA:2753
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic vertebral bodies, Fibular hypoplasia, Short ribs, Incre... ORPHA:3144
Camptodactyly Syndrome, Guadalajara, Type I
Brachydactyly, Toe syndactyly, Small earlobe, Low-set ears, Fibular hypoplasia, Short palm, Short... OMIM:211910
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, 2-4 toe cutaneous syndactyly, Hand tremor, Dysmetria, Short palm, Low-set ears, Hypera... OMIM:614756
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Radial bowing, ... OMIM:601027
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Brachydactyly, Cupped ear, Hypoplasia of proximal radius, Patent foramen ovale, Fibular hypoplasi... ORPHA:444077
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
EEG abnormality, Micrognathia, Patellar dislocation, Ventricular septal defect, Deviation of the ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
EEG abnormality, Micrognathia, Patellar dislocation, Ventricular septal defect, Deviation of the ... ORPHA:353277
Kinsship Syndrome
Coxa valga, Osteopenia, Low-set ears, Fibular hypoplasia, Pes planus, Dislocated radial head, Mic... OMIM:619297
8Q24.3 Microdeletion Syndrome
Pes valgus, Talipes, Pes planus, Clinodactyly of the 5th finger, Optic nerve hypoplasia, Micromel... ORPHA:508488


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 Aak1

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 Aak1.

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

Title Journal IMPC Allele PubMed ID
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Aak1tm1b(EUCOMM)Hmgu PMC5638796

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MGI Allele Allele Type Produced
Aak1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Aak1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Aak1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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