Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
glyceronephosphate O-acyltransferase
Synonyms:
D1Ertd819e

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Gnpat mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Rhizomelic Chondrodysplasia Punctata, Type 2
Rhizomelia, Cataract, Micrognathia, Microcephaly, Disproportionate short stature, Failure to thri... OMIM:222765

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Anxiety, Deficit in phonologic short-term memory, Emotional lability, Depre... ORPHA:280397
Autism, Susceptibility To, X-Linked 4
Impulsivity, Motor tics, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Childhood Disintegrative Disorder
Impaired social interactions, Progressive language deterioration, Motor stereotypy, Anxiety, Deme... ORPHA:168782
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness OMIM:618221
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Cataract, Re... OMIM:615181
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Cognitive impairment, Parkinsonism, Memory impairment, Anxiety, Inappropriate behavior, Ataxia, U... ORPHA:401901
Gilles De La Tourette Syndrome
Phonic tics, Aggressive behavior, Self-mutilation, Motor tics, Attention deficit hyperactivity di... OMIM:137580
Behavioral Variant Of Frontotemporal Dementia
Memory impairment, Disinhibition, Motor stereotypy, Fasciculations, Inappropriate behavior, Menta... ORPHA:275864
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Cerebellar atrophy, Retinopathy, Intrauterine growth retardation, Microcornea, ... OMIM:616171
Congenital Muscular Dystrophy With Cerebellar Involvement
Cerebellar hypoplasia, Retinal detachment, Optic nerve hypoplasia, Microcephaly, Coloboma, Hypopl... ORPHA:370959
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity, Aggressive behavior OMIM:615493
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Mental deterioration, Ataxia, Depression, Myoclonus, Attention deficit hypera... OMIM:619191
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Irritability, Babinski sign, Hyperactivity, Spastic tetraplegia OMIM:616657
Creutzfeldt-Jakob Disease
Memory impairment, Anxiety, Dementia, Extrapyramidal muscular rigidity, Apathy, Gait ataxia, Irri... OMIM:123400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Abnormality of skin pigmentation, Chorioretinal dysplasia, Cerebellar hypoplasi... OMIM:251270
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity, Aggressive behavior ORPHA:356996
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Cerebellar atrophy, EEG abnormality, Decreased body weight, Agenesis ... OMIM:614833
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Poor coordination, Aggressive behavior, Recurrent hand flapping, Stereotypical bod... OMIM:309548
Early-Onset Schizophrenia
Suicidal ideation, Cognitive impairment, Lack of peer relationships, No social interaction, Unhap... ORPHA:96369
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Recurrent hand flapping, Stereotypical body rocking, Clumsine... ORPHA:100973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Cerebellar hypoplasia, Retinal detachment, Optic nerve hypoplasia, Retinal dysplasia, Dan... OMIM:614643
Cofs Syndrome
Cerebral calcification, Intrauterine growth retardation, Abnormality of retinal pigmentation, Cat... ORPHA:1466
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Retinal dysplasia, Microcephaly, Microphthalmia, Hypoplasia of the brainst... OMIM:615771
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Cerebellar hypoplasia, Cryptorchidism, Retinal dysplasia, Retinal detachment, Optic nerve... OMIM:236670
Basal Ganglia Calcification, Idiopathic, 5
Cognitive impairment, Parkinsonism, Anxiety, Dementia, Athetosis, Apathy, Chorea, Motor tics, Dep... OMIM:615483
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Impaired social interactions, Stereotypical hand wringing, Self-injurious behavior, Inappropriate... ORPHA:397933
Warburg Micro Syndrome 1
Cerebral atrophy, Developmental cataract, Agenesis of corpus callosum, Cerebellar hypoplasia, Cry... OMIM:600118
Huntington Disease-Like 2
Action tremor, Anxiety, Dementia, Bradykinesia, Apathy, Irritability, Rigidity, Chorea, Depression OMIM:606438
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Cerebellar hypoplasia, Cataract, Optic nerve hypoplasia, Micrognathia, Mi... ORPHA:163937
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, EEG abnormality, Corneal opacity, Optic nerve hypoplasia, Growth delay, P... ORPHA:137902
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Optic nerve hypoplasia, Frontal encephalocele... OMIM:218670
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Huntington Disease-Like 1
Incoordination, Dysmetria, Anxiety, Dementia, Aggressive behavior, Rigidity, Chorea, Depression OMIM:603218
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Cryptorchidism, Cataract, Optic nerve hypoplasia, Corneal opacity, Micrognath... ORPHA:496790
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Resting tremor, Anxiety, Dementia, Bradykinesia, Rigidity, Depression OMIM:605909
Bresek Syndrome
Intrauterine growth retardation, Cryptorchidism, Optic nerve hypoplasia, Aganglionic megacolon, G... ORPHA:85284
Fanconi Anemia, Complementation Group I
Absent thumb, Hypothyroidism, Colpocephaly, Decreased body weight, Agenesis of corpus callosum, I... OMIM:609053
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Chorioretinal coloboma, Cataract, Short thumb OMIM:274205
Myoclonus-Dystonia Syndrome
Anxiety, Panic attack, Limb myoclonus, Personality disorder, Spinal myoclonus, Torticollis, Depre... ORPHA:36899
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Cataract, Decreased nerve conduction velocity, Microcephaly, Pigmentary retin... OMIM:610651
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Memory impairment, Inertia, Anxiety, Dementia, Inappropriate behavior, Motor deteri... ORPHA:412066
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cerebellar dysplasia, Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Cata... OMIM:613153
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Periventricular Nodular Heterotopia 7
2-3 toe syndactyly, Periventricular nodular heterotopia, Cryptorchidism, Gray matter heterotopia,... OMIM:617201
Warburg Micro Syndrome 4
Cerebellar atrophy, Hypoplasia of the corpus callosum, Small scrotum, Developmental cataract, Sev... OMIM:615663
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy, Cerebellar hypoplasia, Periventricular nodular heterotopia, Microcephaly, Short st... OMIM:618572
Oliver-Mcfarlane Syndrome
Central heterochromia, Hypogonadotropic hypogonadism, Retinal degeneration, Delayed puberty, Smal... OMIM:275400
Dystonia 11, Myoclonic
Anxiety, Agoraphobia, Torticollis, Depression, Myoclonus, Tremor OMIM:159900
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Brachydactyly, Cerebellar atrophy, Polycystic ovaries, Hyperinsulinemia, Cryptorchidism, Abnormal... ORPHA:3085
Spinocerebellar Ataxia 12
Parkinsonism, Dysmetria, Action tremor, Anxiety, Dementia, Head tremor, Progressive cerebellar at... OMIM:604326
Microlissencephaly
Cerebral dysmyelination, Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia... ORPHA:1083
Microphthalmia, Syndromic 5
Anophthalmia, Cryptorchidism, Micropenis, Microcornea, Optic nerve hypoplasia, Cataract, Micropht... OMIM:610125
Geniospasm 1
Anxiety, Chin myoclonus OMIM:190100
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Agyria, Cataract, Gray matter heterotopia, Subcortical band heterotopia, Microcephaly, Pachygyria... OMIM:615412
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar hypoplasia, Cryptorchidism, Periventricular heterotopia, Optic nerve hypoplasia, Sever... ORPHA:468631
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Abnormal motor nerve conduction velocity, Demyelinating peripheral neuropathy... OMIM:618404
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Cerebral atrophy, Hypogonadotropic hypogonadism, Developmental ca... OMIM:604168
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar hypoplasia, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the brainstem, Lissenc... ORPHA:300570
Squalene Synthase Deficiency
2-3 toe syndactyly, Failure to thrive in infancy, Intrauterine growth retardation, Optic nerve hy... OMIM:618156
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microphtha... OMIM:617914
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebral atrophy, Cerebellar atrophy, Hammertoe, Microcephaly, Pigmentary retinopathy, Peripheral... OMIM:619090
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy, Infertility, Abnormality of skin pigmentation OMIM:300719
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Hyperactivity, Aggressive behavior, Hemiparesis, Impulsivity, Hypertonia OMIM:604317
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Chromosome 2P16.1-P15 Deletion Syndrome
Cerebral atrophy, Calcaneovalgus deformity, Cryptorchidism, Micropenis, Optic nerve hypoplasia, M... OMIM:612513
Lissencephaly 1
Agyria, Cerebellar hypoplasia, Gray matter heterotopia, Subcortical band heterotopia, Hypoplasia ... OMIM:607432
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Lenticonus, Retinal atrophy, Pigmentary retinopathy,... ORPHA:52427
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Brachydactyly, Camptodactyly of finger, Decreased nerve conduction velocity, Truncal obesity, Mic... ORPHA:2928
Juvenile Huntington Disease
Dementia, Bradykinesia, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Irrita... ORPHA:248111
Isochromosomy Yq
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... ORPHA:98798
Childhood-Onset Benign Chorea With Striatal Involvement
Anxiety, Parkinsonism with favorable response to dopaminergic medication, Chorea ORPHA:494541
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cerebral atrophy, Sensory axonal neuropathy, EEG abnormality, Premature pubarche, Cryptorchidism,... ORPHA:457205
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Coxa valga, Agenesis of corpus callosum, Small for gestational age, Postaxial foot polydactyly, C... OMIM:301056
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Null Syndrome
Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy, Abnormal cere... ORPHA:280234
Trichothiodystrophy 5, Nonphotosensitive
Progressive microcephaly, Intrauterine growth retardation, Cerebellar hypoplasia, Micropenis, Glo... OMIM:300953
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Poor eye contact, Spasticity, Tremor OMIM:300983
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Decreased body weight, Progressive microcephaly, Dilated fourth ventricle, Cerebellar hypoplasia,... OMIM:300749
Lissencephaly 5
Hydrocephalus, Occipital encephalocele, Cataract, Porencephalic cyst, Gray matter heterotopia, Su... OMIM:615191
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety, Bradykinesia, Lower limb spasticity, Attention deficit hyperactivity disorder OMIM:618878
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele,... ORPHA:1528
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Hypogonadotropic hypogonadism, Missing ribs, Vertebral hypoplasia, Agenes... OMIM:206900
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia, Hy... ORPHA:250972
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Occipital encephalocele, Retinal dysplasia, Ocular anterior segment dysge... ORPHA:324416
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Abnormality of the male genitalia, Cryptorchidism, Male hypo... ORPHA:261529
Walker-Warburg Syndrome
Abnormal cortical gyration, Cerebellar hypoplasia, Cryptorchidism, Retinal detachment, Retinal dy... ORPHA:899
Spinocerebellar Ataxia 14
Dysmetria, Memory impairment, Mental deterioration, Gait ataxia, Progressive cerebellar ataxia, D... OMIM:605361
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Iron accumulation in globus pallidus, Cerebellar vermis atrophy, Retinal pigm... OMIM:619389
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Intrauterine growth retardation, Long toe, Hyperopic astigmatism, Astigmatism, Optic nerve hypopl... ORPHA:363686
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Hyperactivity, Mental deterioration, Ataxia, Spasticity, M... OMIM:615924
Cardiofaciocutaneous Syndrome 4
Cerebellar hypoplasia, Cataract, Optic nerve hypoplasia, Short stature, Cafe-au-lait spot, Multip... OMIM:615280
Chorea, Benign Hereditary
Anxiety, Chorea OMIM:118700
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, 2-4 toe syndactyly, Microcephaly, Male hypogonadism, Syndactyly OMIM:241000
Optic Atrophy-Intellectual Disability Syndrome
Abnormal hippocampus morphology, Optic nerve hypoplasia, Tapered finger, Optic disc hypoplasia, S... ORPHA:401777
Septooptic Dysplasia
Diabetes insipidus, Agenesis of corpus callosum, Anterior pituitary hypoplasia, Optic nerve hypop... OMIM:182230
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Intrauterine growth retardation, Gray matter heterotopia, Subcortical band heterotopia, M... OMIM:615411
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Cataract, Growth delay, Microcephaly, Microphthalmia, Short stature, Hypogonadism ORPHA:2528
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hammertoe, Onion bulb formation, Decreased sensory nerve conduction velocity, Decreased number of... OMIM:609260
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Intrauterine growth retardation, Microcornea, Cataract, Micrognath... ORPHA:48431
Lennox-Gastaut Syndrome
Hyperactivity, Mental deterioration, Aggressive behavior, Personality disorder, Myoclonus ORPHA:2382
Subacute Inflammatory Demyelinating Polyneuropathy
Abnormality of somatosensory evoked potentials, Axonal loss, Abnormality of the autonomic nervous... ORPHA:206594
Cednik Syndrome
Abnormal corpus callosum morphology, Microcephaly, Short stature, Pachygyria, Abnormality of peri... ORPHA:66631
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Preaxial polydactyly, Obesity, Microphthalmia, Coloboma, Short sta... ORPHA:141333
Cockayne Syndrome
Corneal ulceration, Lentiglobus, Patchy demyelination of subcortical white matter, Developmental ... ORPHA:191
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Optic nerve hypoplasia, Dandy-Walker malformation, Microcephaly, Spi... OMIM:618736
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Abnormality of the hypothalamus-pituitary axis, Agenesis of corpus callosu... ORPHA:3157
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Micro Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cryptorchidism, Micrognathia, Microcephaly, Lissenceph... ORPHA:2510
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability, Impulsivity, Myoclonus OMIM:605899
2Q24 Microdeletion Syndrome
Toe syndactyly, Bullet-shaped distal phalanx of the hallux, Small for gestational age, Cataract, ... ORPHA:1617
Tatton-Brown-Rahman Syndrome
Chiari type I malformation, Optic nerve hypoplasia, Encephalomalacia OMIM:615879
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Optic nerve hypoplasia, Agenesis of cerebellar vermis, Hypoplasia of the corpus c... ORPHA:228384
Myoclonic Epilepsy Of Infancy
Poor hand-eye coordination, Mental deterioration, Aggressive behavior, Irritability, Poor motor c... ORPHA:86909
Spinocerebellar Ataxia 48
Dysmetria, Parkinsonism, Anxiety, Mental deterioration, Ataxia, Gait ataxia, Irritability, Chorea... OMIM:618093
Pierson Syndrome
Uveal ectropion, Progressive microcephaly, Retinal hemorrhage, Hypoplasia of the ciliary body, Hy... OMIM:609049
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Cataract, Growth delay, Decreased nerve conduction velocity OMIM:614932
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Chudley-Mccullough Syndrome
Hydrocephalus, Cerebellar dysplasia, Dysplastic corpus callosum, Cerebellar hypoplasia, Gray matt... OMIM:604213
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Abnormal corpus callosum morphology, EEG abnormality, Prominent calcaneus, Intr... ORPHA:565624
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Developmental cataract, Azoospermi... ORPHA:99330
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cataract, Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cort... ORPHA:401830
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Cognitive impairment, Ataxia, Emotional lability, Attention deficit hyperactivity diso... OMIM:614306
Retinopathy, Pigmentary, And Mental Retardation
Moderately short stature, Cataract, Truncal obesity, Microcephaly, Pigmentary retinopathy, Arachn... OMIM:268050
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Cerebellar atrophy, EEG abnormality, Retinopathy, Pigmentary retinopathy, Optic... OMIM:610951
Stromme Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Sclerocornea, Microcornea, Optic nerve hypopl... OMIM:243605
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Landau-Kleffner Syndrome
Frequent falls, Memory impairment, Anxiety, Hyperactivity, Aggressive behavior, Speech apraxia, E... ORPHA:98818
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Krabbe Disease
EEG abnormality, Peripheral demyelination, Decreased nerve conduction velocity, Failure to thrive... OMIM:245200
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Suicidal ideation, Cognitive impairment, Motor stereotypy, Anxiety, Involuntary movements, Depres... ORPHA:98784
Foxg1 Syndrome
Impaired social interactions, Cognitive impairment, Choreoathetosis, Paroxysmal bursts of laughte... ORPHA:561854
Gombo Syndrome
Brachydactyly, Clinodactyly, Microcephaly, Microphthalmia, Delayed puberty, Radial deviation of f... OMIM:233270
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Intrauterine growth retardation, Cryptorchidism, Catar... ORPHA:2772
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Atypical Rett Syndrome
Impaired social interactions, Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involunt... ORPHA:3095
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Onion bulb formation, Decreased nerve conduction velocity, Decreased motor nerve con... OMIM:611228
Maternal Hyperthermia-Induced Birth Defects
EEG abnormality, Intrauterine growth retardation, Clinodactyly of the 5th finger, Aplasia/Hypopla... ORPHA:2216
Retinitis Pigmentosa
Hyperinsulinemia, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morpho... ORPHA:791
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior, Spasticity, Oculomotor apraxia, Tremor OMIM:612716
Pierpont Syndrome
Decreased body weight, Short palm, Micropenis, Microcornea, Cryptorchidism, Chiari malformation, ... OMIM:602342
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Cerebellar hypoplasia, Occipital encephalocele, Gray matter heterotopia, Dysgyria, Hypoplasia of ... ORPHA:352682
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Cataract, Obesity, Microphthalmia, Rod-cone dystrophy, Hydrocephalus, Retinal col... OMIM:601794
Multiple Mitochondrial Dysfunctions Syndrome 5
Growth delay, Microcephaly, Leukodystrophy, Pigmentary retinopathy, Pachygyria, Delayed myelination OMIM:617613
Bornholm Eye Disease
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia OMIM:300843
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract, Truncal obesity, Childhood-onset truncal obesity, Retinal dystrophy OMIM:610156
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Cataract, Aplasia/Hypoplasia of the cerebellar vermis, Abnor... ORPHA:65
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Hammertoe, Onion bulb formation, Axonal degeneration/regeneration, Decreased number of peripheral... OMIM:118210
Cerebrooculofacioskeletal Syndrome 1
Coxa valga, Agenesis of corpus callosum, Second metatarsal posteriorly placed, Cerebellar hypopla... OMIM:214150
Chromosome 19P13.13 Deletion Syndrome
Microcephaly, Chiari type I malformation, Optic nerve hypoplasia, Optic atrophy OMIM:613638
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Progressive microcephaly, Periventricular nodular heterotopia, Periventricular heterotopia, Micro... OMIM:608097
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia, Microcephaly, Failure to thrive, Short stature, Cerebral cortical atrophy... OMIM:617864
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Abnormal aggressive, impulsive or violent behavior, Hyperactivity, ... ORPHA:3077
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Growth delay, Microcephaly, Coloboma, Failure to t... OMIM:274270
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Micropenis, Gray matter heterotopia, Lissencephaly, Pachygyr... OMIM:300067
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Self-injurious behavior, Chorea OMIM:618760
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Large for gestational age, Unilateral cryptorchidism, Optic nerve hypoplasia, Aplasia/Hypoplasia ... ORPHA:137634
Liberfarb Syndrome
Retinal degeneration, Metaphyseal striations, Microcephaly, Retinal pigment epithelial mottling, ... OMIM:618889
Progressive Non-Fluent Aphasia
Parkinsonism, Memory impairment, Apraxia, Anxiety, Frontotemporal dementia, Mental deterioration,... ORPHA:100070
Cataract-Ataxia-Deafness Syndrome
Short stature, Developmental cataract, Decreased nerve conduction velocity ORPHA:1368
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Abnormality of the female genitalia, Cataract, Uterine neoplasm, Anterior lenticonus, Failure to ... ORPHA:1018
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, 11 pairs of ribs, Decreased nerve conduction velocity, Microcephaly, Failure ... OMIM:618356
Pierpont Syndrome
Abnormal cortical gyration, Small for gestational age, Cryptorchidism, Microcornea, Chiari malfor... ORPHA:487825
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Cerebellar atrophy, Decreased nerve conduction velocity, Rod-cone dystrophy... OMIM:612674
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Anophthalmia, Abnormality of the hypothalamus-pituitary axis, Agenesis of... ORPHA:139471
Dystonia 12
Parkinsonism, Anxiety, Bradykinesia, Emotional lability, Torticollis, Depression, Tremor OMIM:128235
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Gray matter heterotopia, Microcephaly, Lissencephaly, Hypopl... OMIM:611603
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of the basal ganglia, Agenesis of corpus callosum, EEG with ... ORPHA:101029
Leiomyomatosis, Diffuse, With Alport Syndrome
Failure to thrive, Cataract, Lenticonus, Anterior lenticonus OMIM:308940
2P15P16.1 Microdeletion Syndrome
EEG abnormality, Toe clinodactyly, Camptodactyly of finger, Intrauterine growth retardation, Cere... ORPHA:261349
Combined Oxidative Phosphorylation Defect Type 13
Abnormal corpus callosum morphology, Developmental cataract, Abnormality of the basal ganglia, In... ORPHA:319514
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Decre... ORPHA:90103
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Dilation of lateral vent... OMIM:618890
Morbid Obesity And Spermatogenic Failure
Infertility, Hypercholesterolemia, Azoospermia, Obesity, Oligospermia, Hypertriglyceridemia, Type... OMIM:615703
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Choroidal neovascularization, ... OMIM:608895
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Cataract, Obesity, External genital hypoplasia, Microphthalmia, Rod-cone dystroph... ORPHA:363741
Cockayne Syndrome Type 3
Corneal ulceration, Lentiglobus, Progressive microcephaly, Retinal degeneration, Microcornea, Cat... ORPHA:90324
Immunodeficiency 8
Hyperactivity OMIM:615401
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Cerebellar hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas, Neonatal insul... ORPHA:65288
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Parkinsonism, Memory impairment, Abnormal social behavior, Disinhibition, Apra... ORPHA:1020
Ring Chromosome 21 Syndrome
Clinodactyly, Infertility, EEG abnormality, Diabetes insipidus, Amenorrhea, Azoospermia, Multiple... ORPHA:1445
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Irritability, Spasticity ORPHA:500545
Adams-Oliver Syndrome 2
Cerebral atrophy, Developmental cataract, Retrocerebellar cyst, Cerebellar hypoplasia, Micrognath... OMIM:614219
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Subcapsular cataract, Cerebral atrophy, Cerebellar atrophy, Polycystic ovaries, Insulin-resistant... OMIM:268020
Alport Syndrome 1, X-Linked
Developmental cataract, Lenticonus, Anterior lenticonus, Hypoparathyroidism, Corneal erosion OMIM:301050
Hemimegalencephaly
EEG with focal sharp slow waves, Focal cortical dysplasia, Hyperintensity of cerebral white matte... ORPHA:99802
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Abnormal vagina... ORPHA:168563
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Hyperactivity, Spasticity, Chorea, Depression, Impulsivity ORPHA:88616
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... OMIM:609311
Lissencephaly 8
Occipital encephalocele, Cataract, Microcephaly, Lissencephaly, Talipes equinovarus, Hypoplasia o... OMIM:617255
Spastic Paraparesis And Deafness
Short stature, Cataract, Hypogonadism OMIM:312910
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Hypoplasia of the fovea, Cataract, Optic n... OMIM:106210
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Warburg Micro Syndrome 3
Hypoplasia of the corpus callosum, Small scrotum, Developmental cataract, Shallow anterior chambe... OMIM:614222
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormality of skin pigmentation, Cataract... OMIM:611040
Cockayne Syndrome B
Patchy demyelination of subcortical white matter, Developmental cataract, Cryptorchidism, Severe ... OMIM:133540
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Motor stereotypy, Self-injurious behavior, Anxiety, Hyperactivity, ... ORPHA:449291
Posterior Cortical Atrophy
Memory impairment, Inertia, Anxiety, Limb apraxia, Ataxia, Speech apraxia, Oculomotor apraxia ORPHA:54247
Warburg Micro Syndrome 2
Hypoplastic labia majora, Hypoplasia of the corpus callosum, Small scrotum, Developmental catarac... OMIM:614225
Alport Syndrome
Retinal flecks, Abnormal corneal endothelium morphology, Anterior lenticonus, Macular degeneratio... ORPHA:63
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Juvenile Neuronal Ceroid Lipofuscinosis
Cognitive impairment, Parkinsonism, Myoclonic spasms, Progressive language deterioration, Motor s... ORPHA:79264
Ataxia-Deafness-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the cerebellum, Decreased nerve conduction velocity, Cerebral cortical atrophy ORPHA:1188
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Cockayne Syndrome A
Patchy demyelination of subcortical white matter, Irregular menstruation, Cryptorchidism, Microce... OMIM:216400
Charcot-Marie-Tooth Disease, Type 4B1
Irregular myelin loops, Abnormal auditory evoked potentials, Decreased motor nerve conduction vel... OMIM:601382
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Missing ribs, Agenesis of corpus callosum, Cryptorchidism, Iris coloboma, ... ORPHA:3301
White-Sutton Syndrome
Brachydactyly, Cerebral atrophy, Intrauterine growth retardation, Thin corpus callosum, Astigmati... OMIM:616364
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Charcot-Marie-Tooth Disease Type 4A
Bilateral talipes equinovarus, Chronic axonal neuropathy, Hammertoe, Limited interphalangeal move... ORPHA:99948
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Progressive language deterioration, Hyperactivity, Ataxia, Aggressi... OMIM:610042
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Premature graying of hair, Azoospermia, Cataract, Short phalanx of finger, Hypergonadotropic hypo... OMIM:300845
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Congenital Varicella Syndrome
Intrauterine growth retardation, Cataract, Microcephaly, Microphthalmia, Micromelia, Cerebral cor... ORPHA:291
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Peripheral axonal neuropathy, Peripheral dysmyelination, Decreased ner... ORPHA:101082
Phace Association
Developmental cataract, Cerebellar hypoplasia, Optic nerve hypoplasia, Congenital hypothyroidism,... OMIM:606519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Opacification of the corneal stroma, Cerebellar hypoplasia, Micropen... OMIM:615287
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Onion bulb formation, Ha... OMIM:610100
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Hyperactivity, Aggressive behavior, Tremor OMIM:619470
47,Xyy Syndrome
Cerebellar dysplasia, Varicocele, Cryptorchidism, Azoospermia, Micropenis, Dysgenesis of the cere... ORPHA:8
16Q24.3 Microdeletion Syndrome
Colpocephaly, Cryptorchidism, Periventricular heterotopia, Astigmatism, Optic nerve hypoplasia, M... ORPHA:261250
Fg Syndrome Type 1
Small pituitary gland, Abnormal thumb morphology, Broad toe, Finger syndactyly, Slender build, Ap... ORPHA:93932
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Myelin outfoldings, Onion bulb formation, Clust... OMIM:607734
Filippi Syndrome
Cerebellar atrophy, Decreased body weight, Intrauterine growth retardation, Cutaneous syndactyly,... OMIM:272440
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Onion bulb formatio... OMIM:605253
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Acromicric Dysplasia
Brachydactyly, Short palm, Short metacarpal, Severe short stature, Fifth metacarpal with ulnar no... ORPHA:969
Intellectual Developmental Disorder, Autosomal Recessive 73
Poor coordination, Recurrent hand flapping, Gait ataxia, Irritability, Impulsivity OMIM:619717
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Segmental peripheral demyelination/remyelination, Abnormal nerve conduc... ORPHA:2932
Senior-Loken Syndrome
Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Short stature, Premature ovaria... ORPHA:3156
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Parkinsonism, Memory impairment, Progressive language deteriorati... OMIM:607485
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agyria, Retinal degeneration, Progressive microcephaly, Agenesis of corpus callosum, Cerebellar h... OMIM:615249
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Ulnar claw, Hammertoe, Hypertrophic nerve changes, Segmental peripheral demyelination/remyelinati... OMIM:118220
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma, Microcornea OMIM:251505
Cerebral Visual Impairment
Focal cortical dysplasia, Abnormal cerebral morphology, Optic nerve hypoplasia, Ischemic stroke, ... ORPHA:447788
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Cerebellar hypoplasia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Spermatogenic Failure 4
Azoospermia OMIM:270960
Parkinsonism-Dystonia 3, Childhood-Onset
Impaired social interactions, Hypertonia, Action tremor, Parkinsonism, Anxiety, Ataxia, Aggressiv... OMIM:619738
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spinocerebellar Ataxia Type 32
Azoospermia, Cerebellar atrophy, Male infertility, Testicular atrophy ORPHA:276183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Cataract, Retinal dysplasia, Dandy-Walker malformation, Hydrocephalus, Hyp... OMIM:613154
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Decreased nerve conduction velocity, Demyelinating motor neuropathy, Peripheral axonal neuropathy... ORPHA:99939
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism, Micrognathia, Microcephaly, Decreased motor nerve conduction velocity, Postnatal ... OMIM:615419
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Azoospermia, Short 4th metacarpal, Obesity, Short... ORPHA:2183
Autosomal Recessive Spastic Paraplegia Type 21
Frontotemporal cerebral atrophy, Abnormal cerebellum morphology, Abnormality of peripheral nerve ... ORPHA:101001
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Parkinsonism With Polyneuropathy
Resting tremor, Anxiety, Bradykinesia, Rigidity, Depression, Parkinsonism with favorable response... OMIM:619279
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal pons morphology, Cerebellar hypoplasia, Cryptorchidism, Micropenis, Microcephaly, Pigmen... ORPHA:370968
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cognitive impairment, Dysmetria, Apraxia, Anxiety, Spastic paraparesis, Bradykine... OMIM:615157
Primary Dystonia, Dyt13 Type
Action tremor, Motor stereotypy, Involuntary movements, Torticollis, Postural tremor ORPHA:98807
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Duplication of phalanx of hand, Clinodactyly of the 5th finger, Optic nerve hypoplasia, Micrognat... ORPHA:508498
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Cerebellar atrophy, Developmental cataract, Microcephaly, Short stature, Cortical dysplasia, Post... OMIM:608278
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Cataract, Growth delay, Microcephaly, Microphthalmia OMIM:278780
Maternal Uniparental Disomy Of Chromosome X
Primary gonadal insufficiency, Agenesis of corpus callosum, Camptodactyly of finger, Azoospermia,... ORPHA:261519
Gluteal Muscles, Absence Of
Spina bifida occulta, Optic nerve hypoplasia OMIM:231970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Retinal dysplasia, Microphthalmia, Hydrocephalus, Type II lissencephaly OMIM:614830
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Hammertoe, Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibe... OMIM:600882
Pancreatic And Cerebellar Agenesis
Cerebellar hypoplasia, Overlapping fingers, Pancreatic hypoplasia, Optic nerve hypoplasia, Microc... OMIM:609069
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:605285
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral atrophy, Cerebellar atrophy, Infertility, Abnormal sperm morphology, Reduced sperm motil... ORPHA:320391
Childhood Absence Epilepsy
Abnormal social behavior, Anxiety, Punding, Limb myoclonus, Low self esteem, Depression, Attentio... ORPHA:64280
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Spinocerebellar Ataxia 32
Azoospermia, Cerebellar atrophy, Testicular atrophy, Infertility OMIM:613909
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Broad proximal phalanges of the hand, Hyperpigmented nevi, Optic nerve h... OMIM:607597
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Premature graying of hair, Delayed puberty, Azoospermia, Cataract, Hypergonadotropic hypogonadism... ORPHA:280679
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity, Impulsivity OMIM:616977
Leukodystrophy, Hypomyelinating, 5
Developmental cataract, Cerebral white matter atrophy, Onion bulb formation, Abnormal cerebellum ... OMIM:610532
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Intrauterine growth retardation, Cryptorchidism, Short metacarpal, Catara... ORPHA:2489
Charcot-Marie-Tooth Disease, Type 4B3
Microcephaly, Onion bulb formation, Decreased nerve conduction velocity, Syndactyly OMIM:615284
Roussy-Levy Hereditary Areflexic Dystasia
Hammertoe, Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bu... OMIM:180800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia, Chorioretinal dysplasia OMIM:616335
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microcornea, Corneal opacity, Microphthalmia ORPHA:2432
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Po... OMIM:614500
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Cln5 Disease
Dysmetria, Anxiety, Hyperactivity, Poor gross motor coordination, Mental deterioration, Aggressiv... ORPHA:228360
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Intrauterine growth retardation, Micropenis, Optic nerve hypoplasia, Cerebellar co... OMIM:619321
Classic Phenylketonuria
Hypertonia, Memory impairment, Self-injurious behavior, Motor deterioration, Mental deterioration... ORPHA:79254
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, ... OMIM:610023
Cach Syndrome
Abnormal pons morphology, Cerebellar atrophy, Cerebral atrophy, Primary amenorrhea, Optic neuriti... ORPHA:135
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Microphthalmia, Macular atrophy, Retinal dy... OMIM:212550
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Nabais Sa-De Vries Syndrome, Type 1
Simplified gyral pattern, Clinodactyly of the 5th finger, Optic nerve hypoplasia, Primary microce... OMIM:618828
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Attenuation of retinal blood vessels, Cataract, Decreased sensory nerve... OMIM:609033
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Decreased body weight, Short palm, Cryptorchidism, Global brain atrophy, Cataract, External genit... OMIM:612947
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Axonal degeneration/regeneration, Decreased number of peripheral myelinated... OMIM:605588
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Intrauterine growth retardation, Corneal opacity, Microcephaly, Abnormali... ORPHA:1980
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Anxiety, Hyperactivity, Aggressive behavior OMIM:609425
4H Leukodystrophy
Cerebellar atrophy, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Delayed pub... ORPHA:289494
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Developmental cataract, Intrauterine growth retardation, Small for gestational age... OMIM:610756
Phenylketonuria
Anxiety, Hyperactivity, Aggressive behavior, Irritability, Self-mutilation, Depression, Attention... OMIM:261600
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased thyroid-stimulating hormone level, Optic nerve hypoplasia, Decrease... ORPHA:226307
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Acute demyelinating polyneuropathy, Demyelinating peri... ORPHA:101081
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Cerebral atrophy, Cerebellar atrophy, CNS hypomyelination, Decreased motor nerve conduction veloc... OMIM:601170
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity ORPHA:98890
Phace Syndrome
Hypothyroidism, Heterochromia iridis, Agenesis of corpus callosum, Cerebellar hypoplasia, Scleroc... ORPHA:42775
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Aplasia/Hypoplasia of the cerebellum, Rod-cone dystrophy ORPHA:1178
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cerebral atrophy, Cerebellar vermis atrophy, Cataract, Growth delay, Dandy-Walker malformation, M... OMIM:616154
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Developmental cataract, Decreased body weight, Cataract, Microceph... OMIM:619420
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Ulnar claw, Peripheral demyelination, Hammertoe, Hypertrophic nerve changes, Myelin outfoldings, ... OMIM:118200
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal dystrophy, Cerebellar hypoplasia, Cryptorchidism, Hypoplastic labia minora, Decreased ser... ORPHA:495875
Microphthalmia, Isolated 4
Microphthalmia, Coloboma, Absent testis, Postaxial polydactyly OMIM:613094
Vici Syndrome
EEG abnormality, Abnormal macular morphology, Agenesis of corpus callosum, Cerebellar hypoplasia,... ORPHA:1493
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Hypertrophic Neuropathy Of Dejerine-Sottas
Ulnar claw, Hammertoe, Hypertrophic nerve changes, Segmental peripheral demyelination/remyelinati... OMIM:145900
Joubert Syndrome 22
Postaxial foot polydactyly, 2-3 toe syndactyly, Intrauterine growth retardation, Retinal dysplasi... OMIM:615665
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Cataract, Retinal detachment, Corne... ORPHA:1473
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Abnormal corpus callosum morphology, Abnormal caudate nucleus morphology, Age... ORPHA:300573
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Resting tremor, Intention tremor, Anxiety, Bradykinesia, Panic attack, Ataxia, Cogw... OMIM:619725
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Segmental peripheral demye... OMIM:601098
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Intrauterine growth retardation, Optic atrophy, Cryptorchidism, Iris colo... ORPHA:494344
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Gray matter heterotopia, Pachygyria, EEG with changes in voltage, Hypsarrhythmia ORPHA:1084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Anxiety, Hyperactivity, Aggressive behavior, Impulsivity ORPHA:101039
Peroxisome Biogenesis Disorder 8B
Cerebellar vermis atrophy, Cataract, Leukodystrophy, Failure to thrive, Corpus callosum atrophy, ... OMIM:614877
Bardet-Biedl Syndrome 13
Obesity, Polydactyly, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:615990
Cntnap2-Related Developmental And Epileptic Encephalopathy
Low frustration tolerance, Progressive language deterioration, Stereotypical hand wringing, Hyper... ORPHA:163681
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, EEG abnormality, Growth delay, Decreased nerve conduction velocity, Abnormal ... ORPHA:485421
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Abnormality of thalamus morphology, Abnormal motor neuron morphology, Leukoencephalo... OMIM:613724
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Ulnar claw, CNS hypomyelination, Hammertoe, Hypertrophic nerve ch... OMIM:214400
Ceroid Lipofuscinosis, Neuronal, 3
Cerebral atrophy, Cataract, Abnormal cerebellum morphology, Rod-cone dystrophy, Macular degenerat... OMIM:204200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia, Retinal dysplasia, Gonadal dysgenesis OMIM:615041
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Rocker bottom foot, Micrognathia, Microcephaly, Microphthalmia, ... OMIM:616570
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Self-mutilation, Aggressive behavior, Recurrent hand flapping OMIM:615516
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Peripheral demyelination, Abnormal periventricular white matter morphology, De... OMIM:249900
Charcot-Marie-Tooth Disease, Type 4B2
Ulnar claw, Hammertoe, Segmental peripheral demyelination/remyelination, Onion bulb formation, De... OMIM:604563
Bardet-Biedl Syndrome 18
Brachydactyly, Cataract, Obesity, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
X-Linked Adrenoleukodystrophy
Incoordination, Cognitive impairment, Paralysis, Disinhibition, Dementia, Hyperactivity, Aggressi... ORPHA:43
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Microphthalmia, Progressive cataract, Iris coloboma OMIM:604219
Spastic Paraplegia 54, Autosomal Recessive
Short stature, Optic nerve hypoplasia, Abnormal periventricular white matter morphology, Hypoplas... OMIM:615033
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Microcephaly, Cortical dysplasia, Hydrocephalus, Abnormality... OMIM:618709
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Hypergonadotropic hypogonadism OMIM:614307
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Decreased number of large peripheral myelinated nerve fibers, Demy... ORPHA:298
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia, Finger syndactyly, Short phalanx of ... ORPHA:59315
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Axonal degeneration/regeneration, Decreased number of peripheral myelinated... OMIM:607706
Brachytelephalangic Chondrodysplasia Punctata
Vertebral hypoplasia, Epiphyseal stippling of toe phalanges, Cataract, Optic nerve hypoplasia, Sh... ORPHA:79345
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Low frustration tolerance, Motor stereotypy, Anxiety, Dementia, Motor deterio... ORPHA:168491
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Septo-optic dysplasia, Primary amenorrhea, Abnormality of the hypothalamus-pituit... ORPHA:95496
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Decreased nerve conduction velocity, Abnormal cerebral white matter morphology OMIM:159550
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Cryptorchidism, Impotence, Male hypogonadism, Absence of pubertal development... ORPHA:432
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Decreased number of large peripheral myelinated nerve fibers, O... ORPHA:101085
Combined Pituitary Hormone Deficiencies, Genetic Forms
Infertility, Septo-optic dysplasia, Optic nerve hypoplasia, Decreased response to growth hormone ... ORPHA:95494
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Hammertoe OMIM:613287
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Intrauterine growth retardation, Small for gestational age, Degen... OMIM:604320
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Aplasia of the uterus, Agenesis of corpus callosum, Postaxial polydactyly, Clinoda... ORPHA:457284
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Foveal Hypoplasia 2
Hypoplasia of the fovea, Posterior embryotoxon, Optic nerve misrouting, Foveal hyperpigmentation,... OMIM:609218
Macrosomia With Microphthalmia, Lethal
Large for gestational age, Microphthalmia OMIM:248110
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal corpus callosum morphology, Cerebellar atrophy, Abnormality of the basal ganglia, EEG ab... ORPHA:543470
Spondylodysplastic Ehlers-Danlos Syndrome
Cryptorchidism, Agenesis of pineal gland, Optic nerve hypoplasia, Micrognathia, Hallux valgus, Me... ORPHA:536471
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Tremor OMIM:619561
Dopa-Responsive Dystonia
Parkinsonism, Abnormal social behavior, Anxiety, Tremor, Panic attack, Poor coordination, Emotion... ORPHA:255
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Agenesis of corpus callosum, Cryptorchidism, Micropenis, Duplication of p... OMIM:243310
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Hypoplasia of the brainstem, Abnormal myelination, Cerebellar atrophy, Optic atrophy OMIM:618324
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Basal ganglia cysts, Cerebellar cyst, Basal gangli... ORPHA:79243
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Athetosis, Ataxia, Aggressive behavior, Progressive extra... ORPHA:382
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Bilateral microphthalmos, Holoprosencephaly... OMIM:611638
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Agenesis of corpus callosum, Rhizomelia, Cataract, Micrognathia, Microp... ORPHA:93267
Hereditary Motor And Sensory Neuropathy V
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Hammertoe OMIM:600361
19P13.13 Microdeletion Syndrome
Clinodactyly, Sandal gap, Hypoplasia of the frontal lobes, Optic nerve hypoplasia, Long fingers, ... ORPHA:357001
Fragile X Syndrome
Recurrent hand flapping, Self-biting, Hyperactivity, Poor eye contact OMIM:300624
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, CNS hypomyelination, Small for gestational age, Intrauterin... OMIM:615095
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Primary am... ORPHA:2235
Choreoacanthocytosis
Parkinsonism, Disinhibition, Anxiety, Dementia, Aggressive behavior, Emotional lability, Tics, Pr... OMIM:200150
Leukodystrophy, Hypomyelinating, 2
Cerebral atrophy, Sensory axonal neuropathy, Demyelinating motor neuropathy, Leukodystrophy, Decr... OMIM:608804
Seckel Syndrome 2
Small for gestational age, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Growth delay, M... OMIM:606744
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Cerebellar atrophy, Onion bulb formation, Axonal degeneration, De... OMIM:302800
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Gm2 Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Cognitive impairment, Anxiety, Inappropriate behavior, Chorea, Exaggerat... ORPHA:309246
Microphthalmia, Isolated 8
Microphthalmia, Coloboma, Retinal detachment, Optic nerve hypoplasia OMIM:615113
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Cataract... OMIM:162400
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity OMIM:618912
Alport Syndrome 3, Autosomal Dominant
Lenticonus, Anterior polar cataract OMIM:104200
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Severe short stature, Premature ovarian insufficiency, Cataract, Failure to thrive ORPHA:2278
X-Linked Charcot-Marie-Tooth Disease Type 3
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Demyelinating peripheral... ORPHA:101077
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Spasticity, Depression OMIM:619467
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Cataract, Per... OMIM:143200
Holoprosencephaly 9
Abnormal cortical gyration, Anophthalmia, Anterior pituitary hypoplasia, Panhypopituitarism, Cryp... OMIM:610829
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation, Decreased nerve conduction velocity OMIM:608236
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Mmep Syndrome
Cryptorchidism, Triphalangeal thumb, Microcephaly, Microphthalmia, Split foot ORPHA:3434
Persistent Placoid Maculopathy
Choroidal neovascularization, Retinal pigment epithelial mottling, Abnormal macular morphology, H... ORPHA:97341
Ritscher-Schinzel Syndrome 3
Chorioretinal coloboma, Shortening of all distal phalanges of the fingers, Hypoplasia of the ulna... OMIM:619135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Agyria, Cerebral calcification, Hydrocephalus, Buphthalmos, Cerebellar cyst, Cataract, Microphtha... OMIM:616538
Bardet-Biedl Syndrome 9
Brachydactyly, Irregular menstruation, Retinal degeneration, Postaxial foot polydactyly, Cataract... OMIM:615986
3-Methylglutaconic Aciduria, Type Viib
Cerebral atrophy, Cerebellar atrophy, Cataract, Growth delay, Microcephaly OMIM:616271
Congenital Rubella Syndrome
Intrauterine growth retardation, Abnormality of retinal pigmentation, Cataract, Corneal opacity, ... ORPHA:290
Oculocerebrocutaneous Syndrome
Anophthalmia, Agenesis of corpus callosum, Cryptorchidism, Gray matter heterotopia, Dandy-Walker ... OMIM:164180
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination, Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cortical atrophy, Age... ORPHA:401820
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... ORPHA:179
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Cerebellar atrophy, Decreased nerve conduction velocity, Micrognathia, Optic at... OMIM:256600
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency, EEG abnormality, Optic atrophy, Abnormality of retinal pigmentatio... ORPHA:44
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Cataract, Growth delay, Pigmentary retinopathy, Keratoconus, A... OMIM:204000
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Autosomal Recessive Spastic Paraplegia Type 15
Retinal flecks, Demyelinating peripheral neuropathy, Abnormal cerebellum morphology, Deep cerebra... ORPHA:100996
Charcot-Marie-Tooth Disease Type 4G
Peripheral demyelination, Demyelinating peripheral neuropathy, Motor conduction block, Decreased ... ORPHA:99953
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Cerebellar hypoplasia, Cataract, Simplified gyral pattern, Hypoplasia of the ... OMIM:224050
Osteoporosis-Pseudoglioma Syndrome
Abnormal vitreous humor morphology, Exudative vitreoretinopathy, Abnormal lower limb bone morphol... ORPHA:2788
Periventricular Nodular Heterotopia 6
Gray matter heterotopia, Hypsarrhythmia, Periventricular nodular heterotopia OMIM:615544
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... ORPHA:59181
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Anxiety, Blepharospasm, Bradykinesia, Rigidity, Postural tremor, Parkinsonism wit... OMIM:606324
Charcot-Marie-Tooth Disease Type 2B1
Axonal loss, Sensory axonal neuropathy, Hammertoe, Decreased number of large peripheral myelinate... ORPHA:98856
Trisomy 13
Anophthalmia, Intrauterine growth retardation, Abnormal morphology of female internal genitalia, ... ORPHA:3378
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, From... OMIM:162500
11Q22.2Q22.3 Microdeletion Syndrome
Anxiety, Attention deficit hyperactivity disorder, Poor eye contact, Abnormal social behavior ORPHA:444002
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Talipes cavus equinovarus, Segmental peripheral demyelination/remyelination, Onion b... OMIM:601455
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination, Hypoplasia of the corpus callosum ORPHA:401840
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Anxiety, Hyperactivity, Ataxia, Aggressive behavior, Hyperkinetic movements OMIM:271980
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebellar atrophy, Cataract, Microcephaly, Talipes equinovarus, Cerebral cortical atrophy, Hypop... OMIM:617481
Fragile X Tremor/Ataxia Syndrome
Action tremor, Dysmetria, Memory impairment, Resting tremor, Disinhibition, Parkinsonism, Anxiety... OMIM:300623
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyebrow, Cerebral dysmyelination, Cerebral atrophy, Peripheral demyelination, Heterochromia... OMIM:609136
Cerebrotendinous Xanthomatosis
Hypothyroidism, Hyperintensity of cerebral white matter on MRI, Global brain atrophy, Abnormal ce... ORPHA:909
Sialidosis Type 1
Cherry red spot of the macula, Retinopathy, EEG abnormality, Cataract, Corneal opacity, Decreased... ORPHA:812
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Decreased motor nerv... OMIM:607831
Marinesco-Sjögren Syndrome
Brachydactyly, Coxa valga, Short palm, Metatarsus valgus, Abnormality of finger, Cerebellar hypop... ORPHA:559
1Q21.1 Microduplication Syndrome
Cryptorchidism, Cataract, Failure to thrive, Hydrocephalus, Talipes equinovarus, Hypospadias ORPHA:250994
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... OMIM:601596
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Microcornea, Astigmatism, Retinal detachment, Cat... OMIM:152950
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea, Macular dystrophy OMIM:616947
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Full-thickness macular hole, Retinal pigment epithelial mottling,... ORPHA:75377
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrauterine growth retardation, Cryptorchidism, Cataract, Optic nerve dysplasia, Micrognathia, M... OMIM:614866
Cerebellar Ataxia-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Abnormality of ret... ORPHA:1173
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, Cerebellar atrophy, Agenesis of corpus callosum, Abnormal retinal morphol... ORPHA:89844
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Intellectual Developmental Disorder, Autosomal Dominant 13
Cerebellar hypoplasia, Microcephaly, Hypoplasia of the brainstem, Peripheral axonal neuropathy, P... OMIM:614563
Cerebrooculofacioskeletal Syndrome 4
EEG abnormality, Decreased body weight, Abnormal retinal morphology, Failure to thrive in infancy... OMIM:610758
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Agenesis of corpus callosum, 2-3 toe syndactyly, Tapered finger, Onion bulb formation, Decreased ... OMIM:218000
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Abnormal pyramidal sign, Hyperactivity, Limb hypertonia, Aggressive behavior, Gait ataxia, Spasti... ORPHA:500180
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hypothyroidism, EEG abnormality, Ulnar deviation of the 2nd finger, Hyperechogenic pancreas, Shaw... ORPHA:456312
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Spasticity, Tremor OMIM:618718
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Talipes equinovarus, Acute demyelinating polyneuropath... ORPHA:3115
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Kapur-Toriello Syndrome
Hypoplastic labia majora, Intrauterine growth retardation, Cryptorchidism, Micropenis, Iris colob... OMIM:244300
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Infantile Spasms-Broad Thumbs Syndrome
Vaginal hernia, EEG abnormality, Aplasia/Hypoplasia of the corpus callosum, Cataract, Micrognathi... ORPHA:3173
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Decreased motor nerve conduction velocity OMIM:614228
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Cryptorchidism, Abnormal cerebellum morphology, Truncal obesity, Micro... OMIM:300957
Charcot-Marie-Tooth Disease Type 4D
Hammertoe, Decreased amplitude of sensory action potentials, Demyelinating peripheral neuropathy,... ORPHA:99950
Proboscis Lateralis
Chorioretinal coloboma, Abnormal corpus callosum morphology, Anophthalmia, Microcornea, Cataract,... ORPHA:141099
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Decreased nerve conduction velocity ORPHA:99944
Srd5A3-Cdg
Hypothyroidism, Cerebellar atrophy, Cataract, Abnormal cerebellum morphology, Optic disc hypoplas... ORPHA:324737
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Cryptorchidi... OMIM:300200
Band Heterotopia
Agenesis of corpus callosum, Gray matter heterotopia, Subcortical band heterotopia, Hydrocephalus... OMIM:600348
Congenital Toxoplasmosis
Cerebral calcification, Intrauterine growth retardation, Failure to thrive in infancy, Abnormalit... ORPHA:858
8P11.2 Deletion Syndrome