Gene Summary

Name:
family with sequence similarity 120, member A
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total body fat amount Fam120aem1(IMPC)J HOM Early adult 1.42×10-05
increased bone mineral density Fam120aem1(IMPC)J HOM Early adult 4.22×10-06
increased lean body mass Fam120aem1(IMPC)J HOM Early adult 1.28×10-05
abnormal auditory brainstem response Fam120aem1(IMPC)J HOM   Early adult 9.77×10-06
hyperactivity Fam120aem1(IMPC)J HOM   Early adult 4.05×10-06
increased bone mineral content Fam120aem1(IMPC)J HOM Early adult 4.89×10-06
increased heart weight Fam120aem1(IMPC)J HOM Early adult 8.99×10-10

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Fam120a 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 Fam120a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture, Connective tissue nevi OMIM:166700
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Multiple lipomas ORPHA:1879
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Facial palsy, Abnormal cortical bone morphology, Sensorineural hearin... ORPHA:3416
Van Buchem Disease
Optic atrophy from cranial nerve compression, Thickened cortex of long bones, Hearing impairment,... OMIM:239100
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity, Decreased body weight, Osteopenia OMIM:608747
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Isolated Osteopoikilosis
Keloids, Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Abnorm... ORPHA:166119
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Craniosynostosis, Facial palsy, Hearing impairment, Increased bone mineral density ORPHA:178377
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Ataxia, Increased bone mineral density,... OMIM:136300
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Facial palsy, Abnormal cortical bone morphology, Sensorineural hearin... ORPHA:2790
Melorheostosis
Ectopic ossification in muscle tissue, Failure to thrive, Hyperostosis, Arthritis, Atypical scarr... ORPHA:2485
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Sclerosteosis
Optic atrophy, Facial palsy, Abnormal cortical bone morphology, Sensorineural hearing impairment,... ORPHA:3152
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Sensorineural hearing impairment, Increased bone mineral density, Hypo... OMIM:241520
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Arthritis, Joint stiffness, Difficulty walking, Thickened cortex of bones ORPHA:564003
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Ravine Syndrome
Failure to thrive, Ataxia, Decreased body weight, Abnormal auditory evoked potentials ORPHA:99852
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Facial diplegia, Diaphyseal sclerosis, Hearing impairment, Papilledema, Craniofaci... OMIM:122860
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment, Generalized osteosclerosis, Thickened cortex of long bones, Osteop... OMIM:607634
Intermediate Osteopetrosis
Optic atrophy from cranial nerve compression, Abnormality of bone mineral density, Generalized os... ORPHA:210110
Dysplastic Cortical Hyperostosis
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality ORPHA:436151
Immunodeficiency 8
Hyperactivity OMIM:615401
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Large for gestational age, Hearing im... OMIM:600501
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Congenital diaphragmatic hernia, Hypera... DECIPHER:39
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Sensorineural hearing impairment, Clavicular sclero... OMIM:144750
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Generalized osteosclerosis, Osteopetrosis, Facia... OMIM:166600
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Failure to thrive, Osteopetrosis, Facial palsy, Splenomegaly OMIM:615085
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Mitral valve prolapse, Sensorineural hearing ... OMIM:616648
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Decreased body weight, Increased bone mineral density, Protrud... OMIM:614856
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Dysosteosclerosis
Optic atrophy, Ventricular septal defect, Abnormal cranial nerve morphology, Abnormal dental enam... ORPHA:1782
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Hepatomegaly, Failure to thrive, Osteopetrosis, Craniosynostosis, Facial palsy, Ca... OMIM:259700
Buschke-Ollendorff Syndrome
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, H... ORPHA:1306
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Facial palsy, Absent brainstem auditory responses, Sensorineural heari... OMIM:617519
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Progressive sensori... OMIM:125250
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Mohr-Tranebjaerg Syndrome
Dystonia, Optic atrophy, Abnormality of somatosensory evoked potentials, Oromandibular dystonia, ... ORPHA:52368
Schnitzler Syndrome
Arthritis, Hepatomegaly, Increased bone mineral density, Splenomegaly ORPHA:37748
Craniometaphyseal Dysplasia
Conductive hearing impairment, Abnormal cranial nerve morphology, Osteopetrosis, Facial palsy, Se... ORPHA:1522
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Optic nerve compression, Cranial nerve compression, R... OMIM:131300
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis, Hearing impairment OMIM:167250
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Heari... OMIM:601455
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Optic disc pallor, Osteopetrosis, Facial palsy, Splenomegaly, Hepato... OMIM:611490
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Continuous spike and waves during slow s... OMIM:301008
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Hearing impairment, Incre... ORPHA:90650
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Osteopetrosis, Cranial nerve compression, Diaphyseal sclerosis, Osteomyelitis, Hep... OMIM:259710
Hyperprolinemia, Type I
Hyperactivity, Ataxia, EEG abnormality OMIM:239500
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Diastrophic Dysplasia
Large earlobe, Overfolded helix, Low-set, posteriorly rotated ears, Hearing impairment, Increased... ORPHA:628
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Dense calvaria, Splenomegaly, Hearing impairment, Hyperactivity, Join... OMIM:252920
Albers-Schönberg Osteopetrosis
Optic atrophy, Generalized osteosclerosis, Facial palsy, Arthritis, Osteomyelitis, Hearing impair... ORPHA:53
Majeed Syndrome
Hepatomegaly, Cachexia, Synovitis, Failure to thrive, Increased susceptibility to fractures, Weig... ORPHA:77297
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis, Cardiomegaly ORPHA:88643
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density OMIM:231095
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age ORPHA:85288
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy, Broad-based gait, Elbow flexion contracture OMIM:619470
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Hepatomegaly OMIM:615924
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Osteoporosis, Sensorineural hearing impairment, Increased bone mineral density, Recurr... OMIM:239000
Hyperphosphatasia With Mental Retardation Syndrome 6
Large earlobe, Hip contracture, EEG with multifocal slow activity, Knee flexion contracture, Oste... OMIM:616809
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Dense calvaria, Splenomegaly, Hearing impairment, Hyperactivity, Joint stiffness, A... OMIM:252900
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hyperactivity, Optic atrophy, Lethargy OMIM:274270
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Cardiomyopathy, S... ORPHA:1215
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Failure to thrive, Macrotia, Posteriorly rotated ears, Hyperactivity, ... OMIM:609425
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Juvenile Huntington Disease
Dystonia, Weight loss, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-... ORPHA:248111
Coffin-Siris Syndrome 7
Abnormal heart morphology, Macrotia, Posteriorly rotated ears, Hearing impairment, Hyperactivity,... OMIM:618027
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment OMIM:248510
Autism Spectrum Disorder Due To Auts2 Deficiency
Umbilical hernia, Small for gestational age, Abnormal heart morphology, Arthrogryposis multiplex ... ORPHA:352490
Lennox-Gastaut Syndrome
Hyperactivity, EEG abnormality, Falls, EEG with focal sharp slow waves ORPHA:2382
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharges, H... ORPHA:88616
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Failure to thrive, Knee osteoarthritis, Abnormal epiphyseal ossification, Loc... ORPHA:93284
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Shoulder flexion contracture, Hip contracture, Flexion contr... OMIM:193700
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Diaphyseal sclerosis, Laryngeal dystonia, Enamel hypo... ORPHA:94089
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hypsarrhythmia, Pulmonic stenosis, EEG with burst suppression, Hyperactivity, ... OMIM:619239
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Optic atrophy, Abnormality of the pinna OMIM:300983
Late-Infantile/Juvenile Krabbe Disease
Gait disturbance, Loss of ambulation, Decreased nerve conduction velocity, Ataxia, Prolonged brai... ORPHA:206443
Ck Syndrome
Slender build, Posteriorly rotated ears, Abnormal cortical bone morphology, Joint hypermobility, ... OMIM:300831
Osteopathia Striata-Cranial Sclerosis Syndrome
Conductive hearing impairment, Osteopetrosis, Facial palsy, Posteriorly rotated ears, Coarse meta... ORPHA:2780
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
Landau-Kleffner Syndrome
EEG with temporal focal spikes, Steppage gait, EEG with generalized epileptiform discharges, Hype... ORPHA:98818
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Osteopenia, Pathologic fracture, Splenomegaly, Increased bone... ORPHA:77259
Gaucher Disease Type 3
Gait disturbance, Hepatomegaly, Pericardial effusion, Mitral valve calcification, Increased susce... ORPHA:77261
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hernia, Dense calvaria, Hearing impairment, Splenomegaly, Hyperactivity, Joint stif... OMIM:252930
Optic Atrophy 11
Optic atrophy, Dysmetria, Facial diplegia, Macrotia, Hearing impairment, Hyperactivity, Ataxia OMIM:617302
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... ORPHA:85188
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Craniosynostosis, Abnormal audit... OMIM:201050
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Enamel hypomineralization, Increased bone mineral density ORPHA:3352
Poems Syndrome
Sclerosis of foot bone, Pericardial effusion, Weight loss, Lipodystrophy, Sclerosis of hand bone,... ORPHA:2905
Rasmussen Subacute Encephalitis
Increased theta frequency activity in EEG, Hemidystonia, EEG with focal epileptiform discharges, ... ORPHA:1929
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Hyperactivity, Decreased body weight OMIM:618342
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification ORPHA:163649
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, EEG abnormality, Broad-based gait, Obesity ORPHA:411515
Cln5 Disease
Dysmetria, EEG with generalized slow activity, Multifocal epileptiform discharges, Hyperactivity,... ORPHA:228360
Beemer-Ertbruggen Syndrome
Low-set, posteriorly rotated ears, Increased bone mineral density ORPHA:1237
Fraxe Intellectual Disability
Hyperactivity, Prominent ear helix ORPHA:100973
Pycnodysostosis
Generalized osteosclerosis, Increased susceptibility to fractures, Osteolytic defects of the dist... ORPHA:763
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, General... ORPHA:363400
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity OMIM:618362
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Congenital sensorineural hearing impairment, Failure to thrive, Osteop... ORPHA:73272
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Osteopetrosis, Hepatosplenomegaly, Splenomegaly OMIM:612840
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Pseudo-fractures, Sensorineural hearing impairment, Abnormal trabecular bone mo... ORPHA:289176
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Macrotia OMIM:615541
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Hyperactivity, Abnormal cardiac septum morphology,... OMIM:614294
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Omphalocele, Failure to thrive, Abnormal vertebral segmentation and fusion, Ab... ORPHA:90652
Dysosteosclerosis
Optic atrophy, Increased susceptibility to fractures, Sclerotic scapulae, Sclerosis of hand bone,... OMIM:224300
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Autoimmune Hypoparathyroidism
Increased bone mineral density, Laryngeal dystonia ORPHA:36913
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Mental Retardation, Autosomal Recessive 61
Hyperactivity, EEG abnormality, Posteriorly rotated ears OMIM:617773
Gaucher Disease
Hepatomegaly, Mitral valve calcification, Abnormal bone structure, Arthrogryposis multiplex conge... ORPHA:355
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Joint laxity, Broad-based gait, Hearing impairment ORPHA:457260
Charcot-Marie-Tooth Disease Type 1F
Steppage gait, Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve condu... ORPHA:101085
Ck Syndrome
Joint hypermobility, Hyperactivity, Slender build, Posteriorly rotated ears ORPHA:251383
Desmosterolosis
Large earlobe, Abnormal earlobe morphology, Failure to thrive, Osteopetrosis, Low-set, posteriorl... ORPHA:35107
Adult-Onset Autosomal Dominant Leukodystrophy
Gait disturbance, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potent... ORPHA:99027
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Intellectual Developmental Disorder, X-Linked 107
Abnormality of superior crus of antihelix, Macrotia, Hyperactivity, Prominent crus of helix, Obes... OMIM:301013
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Posteriorly rotated ears OMIM:617306
Fragile X Syndrome
Hyperactivity, Macrotia, Mitral valve prolapse, Joint laxity OMIM:300624
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Focal EEG discharges with secondary generalization, Shuffling gait, Hyperactivity, Broad-based ga... ORPHA:3077
Werner Syndrome
Chondrocalcinosis, Osteoporosis, Lipodystrophy, Slender build, Lipoatrophy, Increased bone minera... ORPHA:902
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Osteopenia, Pa... OMIM:112250
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Trichothiodystrophy
Ventricular septal defect, Absence of subcutaneous fat, Craniosynostosis, Cardiomyopathy, Osteope... ORPHA:33364
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Osteopetrosis, Autosomal Recessive 3
Optic nerve compression, Osteopetrosis, Diaphyseal sclerosis, Hepatosplenomegaly, Cranial hyperos... OMIM:259730
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Hyperactivity, Attention deficit hyperactivity disorder, Macrotia OMIM:618504
Myoclonic-Astatic Epilepsy
EEG with focal spike waves, Interictal epileptiform activity, EEG with generalized slow activity,... ORPHA:1942
Adult Krabbe Disease
Gait disturbance, Ataxia, EEG abnormality, Broad-based gait, Prolonged brainstem auditory evoked ... ORPHA:206448
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hearing impairment, Hyperactivity, Dysplastic pulmonary valve, Broad-based gait, Decreased body w... OMIM:300958
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Gait disturbance, Optic atrophy, Hepatomegaly, Sca... ORPHA:90321
Cockayne Syndrome B
Optic atrophy, Hepatomegaly, Abnormal auditory evoked potentials, Small for gestational age, Oste... OMIM:133540
Schwartz-Jampel Syndrome
Gait disturbance, Cachexia, Shoulder flexion contracture, Flexion contracture of toe, Hip contrac... ORPHA:800
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Osteopetrosis, Optic atrophy OMIM:618476
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, EEG abnormality OMIM:618718
Erdheim-Chester Disease
Abnormal aortic valve morphology, Weight loss, Osteomyelitis, Ataxia, Increased bone mineral dens... ORPHA:35687
X-Linked Hypophosphatemia
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Arthritis, Reduced... ORPHA:89936
Cerebrotendinous Xanthomatosis
Dystonia, Gait disturbance, Optic disc pallor, Optic atrophy, Abnormal auditory evoked potentials... ORPHA:909
Chromosome 10Q26 Deletion Syndrome
Small for gestational age, Craniosynostosis, Sensorineural hearing impairment, Hyperactivity, Atr... OMIM:609625
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Macrotia, Hearing impairment, Multifocal ep... ORPHA:369891
Cockayne Syndrome A
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Hepatomegaly, Abnormality o... OMIM:216400
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Osteopetrosis, Facial palsy, Macrotia, Abnormal cortical bone morphology, Abnorm... ORPHA:2658
Mogs-Cdg
Dystonia, Optic atrophy, Hepatomegaly, Absent brainstem auditory responses, Cardiomegaly, Sensori... ORPHA:79330
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Hyperactivity, Inability to walk, EEG abnormality, Gait ataxia ORPHA:500180
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Abnormality of peripheral nerve conduction, Optic atrophy, Hyperactiv... ORPHA:35069
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, EEG abnormality OMIM:271980
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Abnormal dental enamel morphology, Increased bone mineral... ORPHA:1798
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait, Failure to thrive OMIM:617865
Clark-Baraitser Syndrome
Hyperactivity, Obesity OMIM:617752
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Hyperactivity, Optic atrophy, Hearing impairment ORPHA:369939
Desmosterolosis
Failure to thrive, Generalized osteosclerosis, Total anomalous pulmonary venous return, Arthrogry... OMIM:602398
Raine Syndrome
Abnormality of the pinna, Posteriorly rotated ears, Arthrogryposis multiplex congenita, Enamel hy... OMIM:259775
Potocki-Lupski Syndrome
Small for gestational age, Failure to thrive, Hearing impairment, Hyperactivity, Atrial septal de... OMIM:610883
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Low-set, posteriorly rotated ears, Hernia, Joint hypermobility, Hypera... ORPHA:3306
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Cachexia, Aganglionic megacolon, Hyperactivity, Ataxia, Joint hyperflexibility ORPHA:52503
Intellectual Developmental Disorder, X-Linked 21
Joint hypermobility, Hyperactivity, Uplifted earlobe OMIM:300143
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Hepatomegaly, Optic disc pallor, Osteopetrosis, Splenomegaly OMIM:259720
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Truncal obesity OMIM:613192
13Q12.3 Microdeletion Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Hearing impairment, Hyperactivity, Camptodact... ORPHA:412035
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, EEG with series of focal spikes, EEG with photoparoxysmal response, EEG with ge... ORPHA:168491
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Hyperactivity, EEG with focal spikes, Unsteady gait, Inguinal hernia ORPHA:485350
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Splenomegaly, Hearing impairment, Hyperactivity, Flexion contracture, Joint stiffne... OMIM:252940
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Reduced bone mineral density, Sensorineural hearing impairment, Laryngeal d... ORPHA:79443
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Abnormal heart morphology, Hearing impairment, Hyper... OMIM:182290
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Failure to thrive in infancy, Small for gestational age, Macrotia, Abnormality ... OMIM:614104
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Interictal epileptiform activity, EEG with generalized epileptiform discharges, EEG... ORPHA:163681
Kenny-Caffey Syndrome, Type 2
Papilledema, Thickened cortex of long bones, Increased bone mineral density, Small for gestationa... OMIM:127000
Myopathy With Extrapyramidal Signs
Dystonia, Optic atrophy, Ventricular septal defect, Hepatomegaly, Splenomegaly, Hyperactivity, At... OMIM:615673
Rubinstein-Taybi Syndrome 2
Hyperactivity, Posterior helix pit OMIM:613684
Trisomy 10P
Low voltage EEG, Abnormal auditory evoked potentials, Small for gestational age, Abnormal heart m... ORPHA:171929
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Laryngeal dystonia, Enamel hypoplasia, Increased bone mineral density, Obesity ORPHA:79444
Chromosome 2Q37 Deletion Syndrome
Sensorineural hearing impairment, Hyperactivity, Obesity, Subvalvular aortic stenosis OMIM:600430
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abnormality of the pinna, Hyperactivity, Abdominal obesity, Gait ataxia, Joint laxity OMIM:300354
12Q14 Microdeletion Syndrome
Failure to thrive, Osteopoikilosis ORPHA:94063
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Hyperactivity OMIM:615286
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Limitation of movement at ankles, Ataxia, Hyperactivity, EEG abnormality, Broad-b... ORPHA:98794
Intellectual Disability, Birk-Barel Type
Contractures involving the joints of the feet, Congenital finger flexion contractures, Hyperactiv... ORPHA:166108
Hyperoxaluria, Primary, Type I
Optic atrophy, Optic neuropathy, Increased bone mineral density, Pathologic fracture OMIM:259900
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Bone Marrow Failure Syndrome 3
Failure to thrive, Hernia, Amelogenesis imperfecta, Reduced bone mineral density, Joint hypermobi... OMIM:617052
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Hepatomegaly, Optic nerve compression, Osteopetrosis, Splenomegaly, Abnormal trabe... OMIM:612301
19P13.12 Microdeletion Syndrome
Conductive hearing impairment, Ventricular septal defect, Craniosynostosis, Arthrogryposis multip... ORPHA:254346
Infantile Krabbe Disease
Optic atrophy, Cachexia, Failure to thrive, Decreased nerve conduction velocity, Hearing impairme... ORPHA:206436
Williams Syndrome
Bicuspid aortic valve, Gait imbalance, Abnormal dental enamel morphology, Synostosis of joints, I... ORPHA:904
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Posteriorly rotated ears OMIM:241410
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy, Fused cervical vertebrae ORPHA:530983
19P13.3 Microduplication Syndrome
Ventricular septal defect, Osteoporosis, Posteriorly rotated ears, Hyperactivity, Microtia ORPHA:447980
Atypical Werner Syndrome
Chondrocalcinosis, Mitral valve prolapse, Failure to thrive, Osteoporosis, Generalized lipodystro... ORPHA:79474
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss OMIM:275000
16P12.1P12.3 Triplication Syndrome
Large earlobe, Failure to thrive, Abnormal heart morphology, Abnormal tricuspid valve morphology,... ORPHA:485405
Primary Hyperoxaluria
Optic atrophy, Optic disc pallor, Failure to thrive, Generalized osteosclerosis, Cardiomyopathy, ... ORPHA:416
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Mucopolysaccharidosis Type 3
Hearing impairment, Reduced bone mineral density, Splenomegaly, Umbilical hernia, Gait disturbanc... ORPHA:581
Mend Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Abnormal heart morphology, Hyperactivity,... ORPHA:401973
Sclerosteosis 1
Optic atrophy, Facial palsy, Sclerotic scapulae, Hearing impairment, Facial palsy secondary to cr... OMIM:269500
Intellectual Disability-Strabismus Syndrome
Gait disturbance, Congenital finger flexion contractures, Failure to thrive, Congenital diaphragm... ORPHA:363528
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Abnormal earlobe morphology, Hyperactivity, EEG abnormality, Camptodactyly of finger, B... ORPHA:85293
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Low-set, posteriorly rotated ears, Abnormal dental enamel morphology ORPHA:2323
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Helsmoortel-Van Der Aa Syndrome
Abnormal heart morphology, Low-set, posteriorly rotated ears, Hyperactivity, Obesity, Joint laxity OMIM:615873
Mucopolysaccharidosis Type 2
Splenomegaly, Umbilical hernia, Conductive hearing impairment, Otosclerosis, Abnormal tricuspid v... ORPHA:580
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Craniosynostosis, Ataxia, Posteriorly rotated ears OMIM:601853
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Small for gestational age, Right ventricular hypertrophy, Car... ORPHA:555874
Cleidocranial Dysplasia
Increased susceptibility to fractures, Hearing impairment, Enamel hypoplasia, Increased bone mine... OMIM:119600
Mend Syndrome
Hyperactivity, Aortic valve stenosis OMIM:300960
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Hyperactivity, Atrial septal defect, Abnormally folded helix, Flexion ... OMIM:309520
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Optic nerve compression, Osteopetrosis, Craniosynostosis, Reduced bone mineral dens... ORPHA:667
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, EEG abnormality OMIM:610042
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Hyperactivity, Hiatus hernia OMIM:609727
Legius Syndrome
Dystonia, Mitral valve prolapse, Vestibular Schwannoma, Hearing impairment, Pulmonic stenosis, Hy... ORPHA:137605
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Osteomyelitis, Hyperactivity, Postural hypotension with compensatory tachycardi... OMIM:256800
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hamstring contractures, Hearing impairment, Hyperactivity, Inability... ORPHA:139396
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hypertrophic cardiomyopathy, Ventricular septal defect, Failure to thrive, Myelofibrosis, Posteri... OMIM:607721
White-Sutton Syndrome
Optic atrophy, Congenital diaphragmatic hernia, Abnormal heart morphology, Posteriorly rotated ea... ORPHA:468678
Angelman Syndrome
Progressive gait ataxia, Hyperactivity, EEG abnormality, Broad-based gait, Obesity OMIM:105830
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Failure to thrive, Macrotia, Shuffling gait, Hyperactivity, Decreased body weight, Flexion contra... OMIM:300534
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conductive hearing impairment, Ventricular septal defect, Pericardial effusion, Joint contracture... OMIM:235510
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mitral valve prolapse, Macrotia, Hyperactivity, Attention deficit hyperactivity disorder, Joint l... ORPHA:449291
7Q11.23 Microduplication Syndrome
Large earlobe, Ventricular septal defect, Abnormal earlobe morphology, Dysmetria, Congenital diap... ORPHA:96121
Pediatric-Onset Graves Disease
Hepatomegaly, Failure to thrive, Craniosynostosis, Splenomegaly, Hyperactivity ORPHA:525731
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder, Progressive hearing im... ORPHA:43
Chromosome 13Q33-Q34 Deletion Syndrome
Small for gestational age, Posteriorly rotated ears, Hearing impairment, Left ventricular hypertr... OMIM:619148
Brain-Lung-Thyroid Syndrome
Dystonia, Ventricular septal defect, Failure to thrive, Falls, Sensorineural hearing impairment, ... ORPHA:209905
Osteopetrosis With Renal Tubular Acidosis
Conductive hearing impairment, Optic atrophy, Hepatomegaly, Failure to thrive, Osteopetrosis, Cra... ORPHA:2785
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Optic atrophy, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Brooks-Wisniewski-Brown syndrome
Optic atrophy, Small for gestational age, Posteriorly rotated ears, Hyperactivity, EEG abnormalit... OMIM:300612
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormality of the optic disc, Hearing impairment,... OMIM:617516
Hyperlysinemia
Dysmetria, Failure to thrive, Craniosynostosis, Hyperactivity, Hypoplasia of the antihelix, Tip-t... ORPHA:2203
Early Infantile Epileptic Encephalopathy
Dystonia, Ventricular septal defect, Umbilical hernia, Failure to thrive, Hypsarrhythmia, EEG wit... ORPHA:1934
Glass Syndrome
Hyperactivity, Inguinal hernia, Broad-based gait, Camptodactyly OMIM:612313
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Omphalocele, Ventricular septal defect, Failure to thrive, Mitral atresia, Double o... OMIM:306955
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Macrotia, Hyperactivity, Joint hypermobility, Abnormality of the pinna OMIM:618505
Schinzel-Giedion Midface Retraction Syndrome
Failure to thrive, Thickened cortex of long bones, Hypsarrhythmia, Atrial septal defect, Sclerosi... OMIM:269150
Angelman Syndrome
Optic atrophy, Optic disc pallor, Hyperactivity, Inability to walk, Ataxia, EEG abnormality, Broa... ORPHA:72
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Koolen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Vertebral fusion, Small for gestational age, Fa... OMIM:610443
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Double outlet right ventricle, Hyperactivit... ORPHA:2209
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Dyggve-Melchior-Clausen Disease
Failure to thrive, Limited knee extension, Hyperactivity, Inability to walk, Limited elbow extens... ORPHA:239
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Hyperactivity, Ataxia ORPHA:760
Distal Trisomy 17Q
Abnormal heart morphology, Low-set, posteriorly rotated ears, Hyperactivity, Bilateral sensorineu... ORPHA:3379
Citrullinemia Type Ii
Hyperactivity, Decreased body mass index, Hepatomegaly, Lethargy ORPHA:247585
Monosomy 9Q22.3
Thickened ears, Large for gestational age, Hyperactivity, Cardiac fibroma, Umbilical hernia, Join... ORPHA:77301
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Ventricular septal defect, Optic disc pallor, Small for gestational age, Failur... ORPHA:464306
Coffin-Siris Syndrome
Ventricular septal defect, Abnormal heart morphology, Hernia, Hearing impairment, Hyperactivity, ... ORPHA:1465
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Weight loss, Small for gestational age ORPHA:424
Distal Monosomy 12Q
Failure to thrive in infancy, Prominent ear helix, Bilateral conductive hearing impairment, Conge... ORPHA:96149
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Torticollis, Hearing impairment, Protruding ear, Decreased body weight, Ve... OMIM:619475
Choreoacanthocytosis
Dilated cardiomyopathy, Abnormal autonomic nervous system physiology, Hepatomegaly, Lingual dysto... ORPHA:2388
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Optic atrophy, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blephar... OMIM:234200
Familial Gestational Hyperthyroidism
Hyperactivity, Weight loss ORPHA:99819
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Corneal scarring, Fasciitis, Abnormality of... ORPHA:642
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Optic atrophy, Small for gestational age, Craniosynostosis, Posteriorly rotated ears, Hearing imp... OMIM:309590
Argininemia
Hyperactivity, Spastic gait, Hepatomegaly OMIM:207800
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Ataxia, Unsteady gait, Protruding ear, Short ear OMIM:614756
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Conductive hearing impairment, Keloids, Bicuspid aortic valve, Ventricular septal defect, Failure... ORPHA:353281
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Multiple joint contractures, Hyperactivity, Protruding ear, Hypsarrhythmia ORPHA:447997
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Joint hypermobility, Hyperactivity, Optic nerve hypoplasia, Inguinal hernia ORPHA:457284
Histidinemia
Hyperactivity ORPHA:2157
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Conductive hearing impairment, Keloids, Bicuspid aortic valve, Ventricular septal defect, Corneal... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Conductive hearing impairment, Keloids, Bicuspid aortic valve, Ventricular septal defect, Corneal... ORPHA:353284
Tetrasomy 9P
Dextrocardia, Pericarditis, Abnormal earlobe morphology, Abnormal mitral valve morphology, Abnorm... ORPHA:3310
8Q24.3 Microdeletion Syndrome
Complete atrioventricular canal defect, Ventricular septal defect, Truncus arteriosus, Small for ... ORPHA:508488

Histopathology

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

There is no histopathology data for Fam120a

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 Fam120a.

No publications found that use IMPC mice or data for Fam120a.

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MGI Allele Allele Type Produced
Fam120aem1(IMPC)J Exon Deletion Mice

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