Gene: Gnpat MGI:1343460

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Human diseases associated with Gnpat (1 diseases)
Human diseases predicted to be associated with Gnpat (1858 diseases)

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		Cataract, Rhizomelia, Disproportionate short stature, Failure to thrive, Stippled calcification p...	OMIM:222765

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

Disease	Matching phenotypes	Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder, Depression	OMIM:613003
Autism, Susceptibility To, 20	Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity	OMIM:618830
Familial Alzheimer-Like Prion Disease	Depression, Emotional lability, Attention deficit hyperactivity disorder, Cognitive impairment, D...	ORPHA:280397
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:608631
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617787
Autism	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:607373
Gilles De La Tourette Syndrome	Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto...	OMIM:137580
Pick Disease Of Brain	Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Frontotemporal dementia, Emotion...	OMIM:172700
Childhood Disintegrative Disorder	Mental deterioration, Abnormal emotion, Reduced social reciprocity, Social and occupational deter...	ORPHA:168782
Intellectual Developmental Disorder, Autosomal Recessive 66	Aggressive behavior, Attention deficit hyperactivity disorder, Excessive shyness	OMIM:618221
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300425
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Cerebellar dysplasia, Hy...	OMIM:615181
Intellectual Developmental Disorder With Autism And Speech Delay	Motor stereotypy, Reduced social reciprocity	OMIM:606053
Schizophrenia 15	Hyperactivity	OMIM:613950
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin...	OMIM:608636
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Cataract, Microcornea, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atroph...	OMIM:616171
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hypoplasia of the pons, Megalocornea, Type II lissencephaly, Agenesis of...	ORPHA:370959
Intellectual Developmental Disorder, Autosomal Recessive 37	Bruxism, Aggressive behavior, Hyperactivity	OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Aggressive behavior, Hyperactivity	ORPHA:356996
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Aggressive behavior, Motor stereotypy, Emotional lability, Agitation	OMIM:617171
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity	OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 64	Aggressive behavior, Reduced social reciprocity	OMIM:618103
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Mental deterioration, Memory impairment, Inappropriate behavior, Disinhibit...	ORPHA:275864
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Cataract, Cerebral atrophy, Microphthalmia, Abnormality of retinal pigmentation, Ce...	OMIM:251270
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Polymicrogyria, Decreased body weight, Agenesis of corpus callosum, Dysplasti...	OMIM:614833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Type II lissencephaly, Encephalocele, Hypoplasia of the corpus callosum, Retinal detachment, Micr...	OMIM:614643
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Optic atrophy, Microcornea, Failure to thrive, Cerebral atrophy, Ex...	OMIM:600118
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Megalocornea, Type II lissencephaly, Micrognathia, Cryptorchidism, Hypop...	OMIM:236670
Intellectual Developmental Disorder, Autosomal Recessive 2	Self-injurious behavior, Attention deficit hyperactivity disorder	OMIM:607417
Cofs Syndrome	Optic atrophy, Cataract, Cerebral cortical atrophy, Camptodactyly of finger, Hypogonadism, Intrau...	ORPHA:1466
X-Linked Intellectual Disability, Najm Type	Optic atrophy, Cataract, Cerebral cortical atrophy, Failure to thrive, Chorioretinal coloboma, Mi...	ORPHA:163937
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos...	ORPHA:231736
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Emotional lability, Disinhibition, Frontotemporal dementia, Dysphagia, Motor stereotypy	OMIM:612069
Lissencephaly Due To Tuba1A Mutation	Cerebellar vermis hypoplasia, Microretrognathia, Polymicrogyria, Hypoplasia of the brainstem, Dil...	ORPHA:171680
Craniotelencephalic Dysplasia	Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele, Microphthalmia, Lissen...	OMIM:218670
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, Cataract, Cerebellar atrophy, Micrognathia, Cryptorchidism, Peripheral axonal neur...	ORPHA:496790
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Short thumb, Cryptorchidism, Chorioretinal coloboma	OMIM:274205
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Lissencephaly, Cataract, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencepha...	OMIM:613153
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Intrauterine growth retardation, Hypoplasia of the corpus callosum, Agene...	OMIM:617914
Bresek Syndrome	Growth delay, Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, Agangli...	ORPHA:85284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Gonadal dysgenesis, Type II lissencephaly, Cerebellar dysplasia, Retinal dysplasia, Neural tube d...	OMIM:615041
Intellectual Developmental Disorder, Autosomal Dominant 70	Cataract, Hypoplasia of the pons, Failure to thrive, Micrognathia, Hypoplasia of the corpus callo...	OMIM:620157
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity	OMIM:616311
Fanconi Anemia, Complementation Group I	Chiari malformation, Absent thumb, Short 1st metacarpal, Short thumb, Decreased response to growt...	OMIM:609053
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Pigmentary retinopathy, Cataract, Cerebellar atrophy, Abnormal CNS myelination, Hy...	OMIM:610651
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Cerebellar atrophy, Short toe, Decreased testicular size, Hyperinsulinemia, Obesity, Ty...	ORPHA:3085
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618709
Hartnup Disorder	Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity	OMIM:234500
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Lissencephaly 8	Optic atrophy, Cataract, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplas...	OMIM:617255
Frontotemporal Dementia	Frontal lobe dementia, Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Frontotem...	OMIM:600274
Retinitis Punctata Albescens	Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ...	ORPHA:52427
N-Acetylaspartate Deficiency	Motor stereotypy, Short attention span, Self-mutilation	OMIM:614063
Warburg Micro Syndrome 4	Small scrotum, Optic atrophy, Microcornea, Cerebellar atrophy, Decreased motor nerve conduction v...	OMIM:615663
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Memory impairment, Inappropriate behavior, Disinhibition, Aggressive behavior, Frontotemporal dem...	OMIM:600795
Craniotelencephalic Dysplasia	Optic atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, F...	ORPHA:1528
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Infertility, Rod-cone dystrophy, Abnormality of skin pigmentation, Cataract	OMIM:300719
Null Syndrome	Optic atrophy, CNS hypomyelination, Decreased nerve conduction velocity, Peripheral demyelination...	ORPHA:280234
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Anophthalmia, Coloboma, Micro...	OMIM:610125
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Postaxial foot polydactyly, Global brain atrophy, Overlapping fingers, Intrauterine growth retard...	OMIM:301056
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy	OMIM:617270
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ...	ORPHA:98797
Maternal Hyperthermia-Induced Birth Defects	Intrauterine growth retardation, Abnormality of neuronal migration, Microcephaly, EEG abnormality...	ORPHA:2216
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Hyperactivity, Irritability	OMIM:616657
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Chromosome 2P16.1-P15 Deletion Syndrome	Hypoplasia of the pons, Cerebral atrophy, Pachygyria, Hypogonadism, Decreased testicular size, Po...	OMIM:612513
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620065
Oliver-Mcfarlane Syndrome	Severe short stature, Pigmentary retinopathy, Central heterochromia, Decreased response to growth...	OMIM:275400
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Isochromosomy Yq	Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar...	ORPHA:98798
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300495
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Optic atrophy, Cerebellar atrophy, Decreased nerve conduction velocity, Subcapsular cat...	OMIM:612674
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Failure to thrive, Secondary microcephaly, Decreased nerve conduction velocit...	OMIM:618404
Polymicrogyria With Optic Nerve Hypoplasia	Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callo...	ORPHA:250972
Ring Chromosome Y Syndrome	Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,...	ORPHA:261529
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased serum estradiol, Microcornea, Decreased motor nerve conduction velocity, Cerebral atrop...	OMIM:604168
Autism, Susceptibility To, 3	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:608049
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Optic atrophy, Sensory axonal neuropathy, Cerebral atrophy, Decreased nerve conduction velocity, ...	ORPHA:457205
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus cal...	ORPHA:468631
Microlissencephaly	Cerebral cortical atrophy, Cerebellar atrophy, Polymicrogyria, Periventricular heterotopia, Hypop...	ORPHA:1083
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Peripheral axonal neuropathy, Micro...	OMIM:619090
Optic Atrophy 11	Optic atrophy, Cherry red spot of the macula, EEG with focal sharp waves, Facial diplegia, Cerebe...	OMIM:617302
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Trichothiodystrophy 5, Nonphotosensitive	Global brain atrophy, Panhypopituitarism, Decreased testicular size, Intrauterine growth retardat...	OMIM:300953
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Dysphagia, Hyperactivity, Impulsivity	OMIM:620448
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Type II lissencephaly, Cerebellar malformation, Coloboma, Hydrocephalus,...	ORPHA:324416
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Abnormally large globe, Hypoplasia of the pons, Retinal coloboma, Hypoplasia of the brainstem, Po...	OMIM:300749
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Motor stereotypy, Reduced social reciprocity	OMIM:617820
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decre...	OMIM:609260
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Rhizomelia, Disproportionate short stature, Failure to thrive, Stippled calcification p...	OMIM:222765
Lissencephaly 1	Pachygyria, Hypoplasia of the brainstem, Secondary microcephaly, Cerebellar hypoplasia, Gray matt...	OMIM:607432
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit...	OMIM:613670
Walker-Warburg Syndrome	Cryptorchidism, Anophthalmia, Agenesis of corpus callosum, Retinal detachment, Chorioretinal dysp...	ORPHA:899
Bornholm Eye Disease	Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Broad distal phalanx of finger, Intrauterine growth retardation, Micrognathia, Astigmatism, Long ...	ORPHA:363686
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:619828
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Ulnar deviation of finger, Micromelia, Camptodactyly of finger, Decreased nerve conduction veloci...	ORPHA:2928
Squalene Synthase Deficiency	Bilateral cryptorchidism, Polymicrogyria, Hypocholesterolemia, Failure to thrive in infancy, Micr...	OMIM:618156
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Hypogonadism, Microcephaly, Microphthalmia, Short stature, Growth delay	ORPHA:2528
2Q24 Microdeletion Syndrome	Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Cataract, Abnormality...	ORPHA:1617
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, 2-4 toe syndactyly, Azoospermia, Microcephaly, Syndactyly	OMIM:241000
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Postnatal growth retardation, Microphthalmia, Cryptorchidism, Anop...	OMIM:206900
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Cerebral cortical atrophy, Intrauterine growth retardation, Micrognathia, ...	ORPHA:48431
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Small hand, Lateral ventricle dilatation, Type II lissencephaly, Postnatal growth retardation, Mi...	ORPHA:300570
Biemond Syndrome Type 2	Preaxial polydactyly, Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Coloboma, Delayed pub...	ORPHA:141333
Micro Syndrome	Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Cryptorchidism, Microphthalmia, Cerebell...	ORPHA:2510
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno...	ORPHA:206594
Rabin-Pappas Syndrome	Cataract, Hypoplasia of the pons, Failure to thrive in infancy, Obesity, Micrognathia, Hypoplasia...	OMIM:620155
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ...	OMIM:118210
Septooptic Dysplasia	Optic disc hypoplasia, Short finger, Decreased response to growth hormone stimulation test, Polyd...	OMIM:182230
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:619031
Combined Oxidative Phosphorylation Deficiency 13	Cataract, Growth delay, Leukodystrophy, Decreased nerve conduction velocity	OMIM:614932
Optic Atrophy-Intellectual Disability Syndrome	Optic atrophy, Keratoconus, Optic nerve hypoplasia, Optic disc hypoplasia, Hypoplasia of the corp...	ORPHA:401777
Septo-Optic Dysplasia Spectrum	Obesity, Cryptorchidism, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Mater...	ORPHA:3157
Long-Olsen-Distelmaier Syndrome	Cataract, Microspherophakia, Failure to thrive, Polymicrogyria, Pachygyria, Optic nerve hypoplasia	OMIM:620609
Glycine Encephalopathy 1	Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity	OMIM:605899
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
Chudley-Mccullough Syndrome	Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, D...	OMIM:604213
Autosomal Recessive Spastic Paraplegia Type 69	Cataract, Cerebral cortical atrophy, Agenesis of corpus callosum, Abnormal myelination, Aplasia/H...	ORPHA:401830
Cardiofaciocutaneous Syndrome 4	Cataract, Decreased response to growth hormone stimulation test, Multiple lentigines, Cerebellar ...	OMIM:615280
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Hyperprolinemia, Type I	Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:239500
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing	ORPHA:397933
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Focal polymicrogyria, Hypoplasia of the brainstem, Partial agenesis...	OMIM:615771
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Bruxism, Inappropriate laughter, Motor stereotypy, Aggressive behavior	OMIM:619150
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased nerve conduction...	OMIM:601098
Developmental And Epileptic Encephalopathy 43	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:617113
Pierson Syndrome	Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri...	OMIM:609049
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Hypoplasia of the corpus callosum, Frontal cortical atrophy, Agenesis of cerebell...	ORPHA:228384
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Retinal coloboma, Hypogonadism, Obesity, Cryptorchidism, Hydrocephalus, Rod-cone dystro...	OMIM:601794
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Ulnar claw, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decrease...	OMIM:607706
Charcot-Marie-Tooth Disease, Type 4J	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Peripheral hypomy...	OMIM:611228
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Hypoplasia of the pons, Agenesis of corpus callosum, Microcephaly, ...	OMIM:618736
Stromme Syndrome	Cerebellar vermis hypoplasia, Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity,...	OMIM:243605
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Asparagine Synthetase Deficiency	Cerebellar vermis hypoplasia, Global brain atrophy, Hypoplasia of the pons, Failure to thrive, Hy...	OMIM:615574
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Failure to thrive, Polymicrogyria, Micrognathia, Cryptorchidism, Hypoplasia of the corpus callosu...	OMIM:604317
Leber Congenital Amaurosis	Cataract, Keratoconus, Abnormality of retinal pigmentation, Encephalocele, Abnormality of neurona...	ORPHA:65
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Retinopathy, EEG abn...	OMIM:610951
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Unilateral cryptorchidism, Large for gestational age, Aplasia/Hypoplasia of the optic nerve, Opti...	ORPHA:137634
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Micrognathia, Agenesis of corpus callosum, Cerebellar hypoplasia...	OMIM:616570
Pierpont Syndrome	Abnormal peripheral nervous system morphology, Microcornea, Chiari malformation, Prominent finger...	OMIM:602342
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Emotional lability	OMIM:617028
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Anterior lenticonus, Cataract, Uterine neoplasm, Keratitis, Failure to thrive, Vaginal neoplasm, ...	ORPHA:1018
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Intrauterine growth retardation, Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Agy...	OMIM:615411
Lennox-Gastaut Syndrome	Mental deterioration, Aggressive behavior, Hyperactivity, Irritability	ORPHA:2382
Cataract-Ataxia-Deafness Syndrome	Short stature, Decreased nerve conduction velocity, Developmental cataract	ORPHA:1368
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Lissencephaly, X-Linked, 1	Pachygyria, Postnatal growth retardation, Agenesis of corpus callosum, Micropenis, Agyria, Gray m...	OMIM:300067
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Failure to thrive, Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Co...	OMIM:274270
Microphthalmia With Brain And Digit Anomalies	Iris coloboma, Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Cataract, Finge...	ORPHA:139471
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased amplitude of sensory action potentials, Failure to thrive in infancy, Decreased nerve c...	ORPHA:90103
Chromosome 19P13.13 Deletion Syndrome	Chiari type I malformation, Optic atrophy, Microcephaly, Optic nerve hypoplasia	OMIM:613638
Gombo Syndrome	Radial deviation of finger, Clinodactyly, Microcephaly, Delayed puberty, Brachydactyly, Microphth...	OMIM:233270
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
49,Xyyyy Syndrome	Short 5th finger, Male hypogonadism, Abnormality of the testis size, Finger clinodactyly, Decreas...	ORPHA:99330
Lissencephaly 3	Cerebellar vermis hypoplasia, Polymicrogyria, Periventricular laminar heterotopia, Hypoplasia of ...	OMIM:611603
Spermatogenic Failure 84	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:620409
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Retinal pigment epithelial mottling, Cerebellar vermis atrophy, Peripheral ax...	OMIM:619389
Verheij Syndrome	Short 5th finger, Clinodactyly, Cerebral atrophy, Intrauterine growth retardation, Microcephaly, ...	OMIM:615583
Spermatogenic Failure 65	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm...	OMIM:619712
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Retinal coloboma, Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, R...	ORPHA:363741
Lissencephaly 5	Optic atrophy, Cerebellar vermis hypoplasia, Cataract, Occipital encephalocele, Hypoplasia of the...	OMIM:615191
Pierpont Syndrome	Microcornea, Abnormal cortical gyration, Chiari malformation, Short toe, Prominent fingertip pads...	ORPHA:487825
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cataract, Disproportionate short-limb short stature, Micromelia, Intrauterine growth retardation,...	ORPHA:2772
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Macular Degeneration, Age-Related, 3	Choroidal neovascularization, Macular degeneration, Decreased nerve conduction velocity, Peripher...	OMIM:608895
Developmental And Epileptic Encephalopathy 107	Motor stereotypy	OMIM:620033
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy, Leukodystrophy, Microcephaly, Pachygyria, Delayed myelination, Growth delay	OMIM:617613
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hypsarrhythmia, Op...	OMIM:618890
Morbid Obesity And Spermatogenic Failure	Azoospermia, Obesity, Type II diabetes mellitus, Hypercholesterolemia, Oligozoospermia, Hypertrig...	OMIM:615703
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ...	OMIM:601382
Combined Oxidative Phosphorylation Defect Type 39	Lateral ventricle dilatation, Cerebral atrophy, Decreased nerve conduction velocity, Intrauterine...	ORPHA:565624
Cognitive Impairment With Or Without Cerebellar Ataxia	Cerebellar atrophy, Optic nerve hypoplasia	OMIM:614306
Cednik Syndrome	Optic atrophy, Polymicrogyria, Hypogonadism, Abnormality of peripheral nerve conduction, Microcep...	ORPHA:66631
Krabbe Disease	Optic atrophy, Failure to thrive, Decreased nerve conduction velocity, Peripheral demyelination, ...	OMIM:245200
Alport Syndrome 1, X-Linked	Anterior lenticonus, Lenticonus, Developmental cataract, Hypoparathyroidism, Corneal erosion	OMIM:301050
Charcot-Marie-Tooth Disease, Type 4H	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609311
Cockayne Syndrome	Lentiglobus, Absence of pubertal development, Postnatal growth retardation, Cryptorchidism, Perip...	ORPHA:191
Leiomyomatosis, Diffuse, With Alport Syndrome	Cataract, Anterior lenticonus, Lenticonus, Failure to thrive	OMIM:308940
Microphthalmia, Isolated 5	Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule...	OMIM:611040
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Polyphagia, Reduced social reciprocity	ORPHA:329249
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Axonal regeneration, Decreased sensory nerve conduction velocity, Decreased motor nerve conductio...	OMIM:608323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar dysplasia, Hypoplasia of th...	OMIM:613155
2P15P16.1 Microdeletion Syndrome	Toe clinodactyly, Optic atrophy, Sandal gap, Failure to thrive, Supernumerary nipple, Hypogonadis...	ORPHA:261349
Alport Syndrome	Anterior lenticonus, Clitoral hypertrophy, Macular degeneration, Posterior subcapsular cataract, ...	ORPHA:63
Leber Congenital Amaurosis 2	Cerebellar vermis hypoplasia, Pigmentary retinopathy, Cataract, Keratoconus, Attenuation of retin...	OMIM:204100
Cataract 16, Multiple Types	Posterior polar cataract, Developmental cataract, Lenticonus, Retinal dystrophy	OMIM:613763
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure 56	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:619515
Ring Chromosome 21 Syndrome	Small hand, Clinodactyly, Diabetes insipidus, Azoospermia, Amenorrhea, Microcephaly, Multiple caf...	ORPHA:1445
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Hypogonadism, Cryp...	ORPHA:3363
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Facial diplegia, ...	OMIM:218000
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Cerebellar hypoplasia, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pa...	ORPHA:65288
Charcot-Marie-Tooth Disease Type 4A	Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers...	ORPHA:99948
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Combined Oxidative Phosphorylation Defect Type 13	Failure to thrive, Decreased nerve conduction velocity, Intrauterine growth retardation, Developm...	ORPHA:319514
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Cerebrooculofacioskeletal Syndrome 1	Cataract, Cerebellar atrophy, Failure to thrive, Micrognathia, Cryptorchidism, Second metatarsal ...	OMIM:214150
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Cerebellar hypoplasia, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Onion bulb formatio...	OMIM:605253
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Depression, Short attention span, Recurrent ha...	ORPHA:449291
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn...	ORPHA:168563
Charcot-Marie-Tooth Disease Type 1B	Peripheral dysmyelination, Decreased nerve conduction velocity, Abnormal pupil morphology, Periph...	ORPHA:101082
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Pigmentary retinopathy, Cerebellar atrophy, Insulin-resistant diabetes mellitus, Cerebral atrophy...	OMIM:268020
Giant Axonal Neuropathy 2, Autosomal Dominant	Onion bulb formation, Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Ha...	OMIM:610100
Liberfarb Syndrome	Retinal pigment epithelial mottling, Retinal degeneration, Microcephaly, Metaphyseal striations, ...	OMIM:618889
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell...	OMIM:301059
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Dysgy...	ORPHA:352682
Cockayne Syndrome A	Cryptorchidism, Irregular menstruation, Cataract, Cerebral atrophy, Peripheral dysmyelination, De...	OMIM:216400
Cockayne Syndrome B	Postnatal growth retardation, Cryptorchidism, Severe failure to thrive, Microphthalmia, Microcorn...	OMIM:133540
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Ectopia pu...	OMIM:106210
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Recurrent hand flapping, Motor stereotypy, Dysphagia	OMIM:617862
Acromicric Dysplasia	Severe short stature, Small hand, Fifth metacarpal with ulnar notch, Decreased nerve conduction v...	ORPHA:969
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:619470
Female Restricted Epilepsy With Intellectual Disability	Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci...	ORPHA:101039
Microphthalmia/Coloboma 4	Microcornea, Coloboma, Microphthalmia	OMIM:251505
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Obesity, Short 4th metacarpal, Hydrocephalus, Short stature, Abnormality of the hypo...	ORPHA:2183
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Iris coloboma, Cataract, Microcornea, Micrognathia, Microphthalmia, Cryptorchidism...	ORPHA:3301
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Secondary microcephaly, Cryptorchidism, Cerebellar hypoplasia, Microphthalmia, Optic di...	OMIM:613730
Developmental And Epileptic Encephalopathy 58	Motor stereotypy	OMIM:617830
Intellectual Developmental Disorder, Autosomal Dominant 67	Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity	OMIM:619927
Microcephaly 10, Primary, Autosomal Recessive	Cataract, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retardation, Micrognathia, Ag...	OMIM:615095
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Hyperlysinemia, Type I	Ectopia lentis, Optic nerve hypoplasia	OMIM:238700
Landau-Kleffner Syndrome	Memory impairment, Depression, Short attention span, Emotional lability, Aggressive behavior, Att...	ORPHA:98818
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Hypoplasia of the brainstem, Type II lissencephaly, Retinal deg...	OMIM:615249
Ataxia-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy	ORPHA:1188
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormal myelination, Abnormality of peripheral nerve conduction	ORPHA:431329
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Demyelinating sensory neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction ve...	ORPHA:99939
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio...	OMIM:619827
Sub-Cortical Nodular Heterotopia	Polymicrogyria, EEG with focal slow activity, Hypoplasia of the corpus callosum, Agenesis of corp...	ORPHA:101029
47,Xyy Syndrome	Varicocele, Dysgenesis of the cerebellar vermis, Finger clinodactyly, Cerebellar dysplasia, Azoos...	ORPHA:8
Chronic Inflammatory Demyelinating Polyneuropathy	Abnormal nerve conduction velocity, Decreased nerve conduction velocity, Peripheral demyelination...	ORPHA:2932
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Ulnar claw, Decreased motor nerve conduction velocity, Decreased distal sensory nerve action pote...	OMIM:607684
Warburg Micro Syndrome 2	Small scrotum, Optic atrophy, Cataract, Microcornea, Undetectable visual evoked potentials, Globa...	OMIM:614225
Spermatogenic Failure 20	Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Leukodystrophy, Hypomyelinating, 24	Severe short stature, Cataract, Decreased motor nerve conduction velocity, Cerebral atrophy, Leuk...	OMIM:619851
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Cerebellar atrophy, Cerebral atrophy, Decreased number...	OMIM:607250
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Cerebellar atrophy, Male infertility	ORPHA:276183
Phenylketonuria	Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d...	OMIM:261600
Fg Syndrome Type 1	Small pituitary gland, Finger syndactyly, Clinodactyly of the 2nd finger, Aplasia/Hypoplasia of t...	ORPHA:93932
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve...	OMIM:615376
D-Glyceric Aciduria	Cerebral cortical atrophy, Failure to thrive, Microcephaly, Delayed CNS myelination, Hypsarrhythm...	OMIM:220120
Phace Association	Optic atrophy, Congenital hypothyroidism, Lingual thyroid, Cerebellar hypoplasia, Increased retin...	OMIM:606519
White-Sutton Syndrome	Broad thumb, Hypoplastic cervical vertebrae, Failure to thrive, Cerebral atrophy, Obesity, Microg...	OMIM:616364
Martsolf Syndrome 2	Cataract, Lateral ventricle dilatation, Camptodactyly of finger, Overlapping toe, Hypoplasia of t...	OMIM:619420
Alport Syndrome 2, Autosomal Recessive	Cataract, Anterior lenticonus, Corneal erosion	OMIM:203780
Maternal Uniparental Disomy Of Chromosome X	Hypopigmentation of the skin, Rocker bottom foot, Camptodactyly of finger, Azoospermia, Agenesis ...	ORPHA:261519
Charcot-Marie-Tooth Disease, Type 4A	Ulnar claw, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Basal lamina o...	OMIM:214400
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Motor stereotypy	OMIM:615282
Spermatogenic Failure 40	Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell...	OMIM:620084
Adams-Oliver Syndrome 2	Optic atrophy, Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Micrognathia, Abse...	OMIM:614219
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Self-injurious behavior, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter	OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 38	Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,...	OMIM:615516
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Peters anomaly, Clinodactyly, Coloboma, Brachydactyly, Ocular anterior segment dysgenesis, Microp...	OMIM:610023
16Q24.3 Microdeletion Syndrome	Micrognathia, Periventricular heterotopia, Astigmatism, Cryptorchidism, Hypoplasia of the corpus ...	ORPHA:261250
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Microcornea, Large for gestational age, Corneal opacity	ORPHA:2432
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Optic atrophy, Decreased motor nerve conduction velocity, Postnatal growth retardation, Intrauter...	OMIM:615419
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia, Cerebellar atrophy	OMIM:613909
Spermatogenic Failure 39	Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo...	OMIM:618643
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Cataract 24	Anterior lenticonus, Anterior polar cataract	OMIM:601202
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Aplasia/Hypoplasia of the cerebellum, Rod-cone dystrophy	ORPHA:1178
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile...	OMIM:619585
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Short thumb, Chorioretinal coloboma, Intrauterine growth retardation, Cryptorchidism, S...	ORPHA:2489
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Failure to thrive, Decreased nerve conduction velocity, 11 pairs of ribs, Mic...	OMIM:618356
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Pigmentary retinopathy, Cataract, Peripheral demyelination, Attenuation of retinal...	OMIM:609033
Pitt-Hopkins-Like Syndrome 1	Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera...	OMIM:610042
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ...	OMIM:600882
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia	ORPHA:1574
Cone-Rod Dystrophy 16	Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh...	OMIM:614500
Early-Onset X-Linked Optic Atrophy	Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity	ORPHA:98890
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Hypopituitarism, Preaxial foot polyd...	OMIM:603671
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Microcephaly, Syndactyly, Onion bulb formation, Myelin outfo...	OMIM:615284
Congenital Varicella Syndrome	Cataract, Cerebral cortical atrophy, Micromelia, Intrauterine growth retardation, Microcephaly, M...	ORPHA:291
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Facial diplegia, Onion bulb formation, Decreased numbe...	OMIM:618184
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618906
Cerebrooculonasal Syndrome	Cerebellar vermis hypoplasia, Iris coloboma, Postnatal growth retardation, Encephalocele, Anophth...	OMIM:605627
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cataract, Elevated circulating luteinizing hormone level, Small hand, Premature graying of hair, ...	OMIM:300845
Developmental And Epileptic Encephalopathy 30	Motor stereotypy	OMIM:616341
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:610532
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Cockayne Syndrome Type 3	Lentiglobus, Cataract, Microcornea, Cerebellar dentate nucleus calcification, Premature graying o...	ORPHA:90324
Xeroderma Pigmentosum, Complementation Group G	Cataract, Microcephaly, Microphthalmia, Growth delay, Small for gestational age	OMIM:278780
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Ulnar claw, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased numb...	OMIM:118220
Microphthalmia, Isolated 4	Postaxial polydactyly, Absent testis, Coloboma, Microphthalmia	OMIM:613094
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Pachygyria, Aplasia/Hypoplasia of the cerebellum, Optic nerve hypoplasia	ORPHA:572013
Autosomal Recessive Spastic Paraplegia Type 21	Hypoplasia of the corpus callosum, Abnormal cerebellum morphology, Abnormality of peripheral nerv...	ORPHA:101001
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity, ...	OMIM:605726
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Joubert Syndrome 40	Postaxial polydactyly, Optic nerve hypoplasia	OMIM:619582
Cach Syndrome	Optic atrophy, Cataract, Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy, Gona...	ORPHA:135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia, Retinal dysplasia	OMIM:614830
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Decreased motor nerve conduction velocity, Hypergonadotropic hypogonadism	OMIM:613724
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne...	ORPHA:1473
Nabais Sa-De Vries Syndrome, Type 1	Clinodactyly of the 5th finger, Simplified gyral pattern, Primary microcephaly, Optic nerve hypop...	OMIM:618828
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp...	DECIPHER:29
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Overlapping toe, Micrognathia, Hypoplasia of the corpus callosum, Agenesis of corpus...	ORPHA:508498
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Cerebellar vermis hypoplasia, Iris coloboma, Peters anomaly, Chorioretinal colobom...	ORPHA:494344
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Microcephaly, Chorioretinal dysplasia	OMIM:616335
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Bilateral microphthalmos, Ethmoidal encephalocele, Hyperpig...	OMIM:607597
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:619689
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b...	OMIM:617044
Spermatogenic Failure 47	Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Senior-Loken Syndrome	Cataract, Abnormality of retinal pigmentation, Short stature, Premature ovarian insufficiency, Re...	ORPHA:3156
Warburg Micro Syndrome 3	Small scrotum, Optic atrophy, Cataract, Microcornea, Cerebral cortical atrophy, Polymicrogyria, S...	OMIM:614222
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cataract, Premature graying of hair, Decreased response to growth hormone stimulation test, Decre...	ORPHA:280679
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased motor nerve conduction velocity, Clusters of axonal regeneration, Decreased number of p...	OMIM:607734
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma	OMIM:604219
Foxg1 Syndrome	Bruxism, Reduced social reciprocity, Stereotypical hand wringing, Motor stereotypy, Cognitive imp...	ORPHA:561854
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor...	ORPHA:3077
Microphthalmia, Isolated 8	Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ...	OMIM:615113
Hemimegalencephaly	Optic atrophy, Hemihypsarrhythmia, Polymicrogyria, Interictal EEG abnormality, Abnormal neuron mo...	ORPHA:99802
Isolated Lissencephaly Type 1 Without Known Genetic Defects	EEG with changes in voltage, Hypsarrhythmia, Pachygyria, Agyria, Gray matter heterotopia	ORPHA:1084
Vici Syndrome	Optic atrophy, Cataract, Hypopigmentation of the skin, Cerebral cortical atrophy, Hypoplasia of t...	ORPHA:1493
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ...	OMIM:605588
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Decreased testicular size, Intrauterine growth retardation, Genu valgum, Microceph...	OMIM:619321
Joubert Syndrome 22	Temporal cortical atrophy, Retinal dysplasia, Postaxial foot polydactyly, Intrauterine growth ret...	OMIM:615665
Roussy-Levy Hereditary Areflexic Dystasia	Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased number of periph...	OMIM:180800
Bardet-Biedl Syndrome 13	Obesity, Attenuation of retinal blood vessels, Polydactyly, Bone spicule pigmentation of the reti...	OMIM:615990
Chromosome 3Q29 Deletion Syndrome	Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:609425
Intellectual Developmental Disorder, X-Linked 111	Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors	OMIM:301107
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,...	OMIM:619177
Early-Onset Autosomal Dominant Alzheimer Disease	Memory impairment, Confusion, Disinhibition, Dementia, Semantic dementia, Abnormal social behavio...	ORPHA:1020
Microphthalmia/Coloboma 10	Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit	OMIM:616428
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Charcot-Marie-Tooth Disease Type 1A	Acute demyelinating polyneuropathy, Decreased sensory nerve conduction velocity, Decreased motor ...	ORPHA:101081
Congenital Fibrosis Of Extraocular Muscles	Finger aplasia, Cataract, Polymicrogyria, Abnormal pupil shape, Hypogonadotropic hypogonadism, An...	ORPHA:45358
Phace Syndrome	Retinal vascular malformation, Cataract, Optic nerve hypoplasia, Agenesis of corpus callosum, Cer...	ORPHA:42775
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Agenesis of...	ORPHA:226307
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J	Decreased motor nerve conduction velocity, Hammertoe	OMIM:620111
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Morm Syndrome	Cataract, Retinal atrophy, Truncal obesity, Micropenis, Retinal dystrophy	ORPHA:75858
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Motor stereotypy, Irritability	OMIM:617393
Congenital Muscular Dystrophy With Intellectual Disability	Cerebellar vermis hypoplasia, Pigmentary retinopathy, Cerebral cortical atrophy, Cryptorchidism, ...	ORPHA:370968
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Cataract, Camptodactyly of finger, Intrauterine growth retardation, Micrognathia, ...	OMIM:610756
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Cataract, Cerebral atrophy, Cerebellar vermis atrophy, Microcephaly, Delayed CNS myelination, Gro...	OMIM:616154
11Q22.2Q22.3 Microdeletion Syndrome	Compulsive behaviors, Attention deficit hyperactivity disorder, Short attention span, Abnormal so...	ORPHA:444002
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Abnormal mitochondrial shape, Cerebellar atrophy, Secondary microcephaly, Decrease...	ORPHA:485421
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment	ORPHA:309246
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Normosmic Congenital Hypogonadotropic Hypogonadism	Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, Increased female li...	ORPHA:432
Hypertrophic Neuropathy Of Dejerine-Sottas	Ulnar claw, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral dem...	OMIM:145900
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Baraitser-Winter Syndrome 1	Failure to thrive, Chorioretinal coloboma, Pachygyria, Postnatal growth retardation, Cryptorchidi...	OMIM:243310
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Ulnar claw, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral dem...	OMIM:118200
Foveal Hypoplasia 2	Foveal hyperpigmentation, Astigmatism, Optic nerve misrouting, Axenfeld anomaly, Hypoplasia of th...	OMIM:609218
Deleted in azoospermia	Azoospermia	OMIM:400003
Encephalopathy, Progressive, With Or Without Lipodystrophy	Mental deterioration, Hyperactivity	OMIM:615924
Seckel Syndrome 2	Growth delay, Few cafe-au-lait spots, Micrognathia, Cerebellar hypoplasia, Microcephaly, Short st...	OMIM:606744
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Hammertoe	OMIM:613287
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Depression, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, ...	OMIM:620242
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Decreased moto...	OMIM:605285
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia	ORPHA:35612
Intellectual Developmental Disorder, Autosomal Recessive 39	Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:615541
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Rhizomelia, Micrognathia, Abnormal metaphysis morphology, Agenesis of corpus callosum, ...	ORPHA:93267
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Cataract, Macular degeneration, Cerebral atrophy, Abnormal cerebellum morphology, ...	OMIM:204200
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Ulnar claw, Chronic axonal neuropathy, Decreased motor nerve conduction velocity	OMIM:606595
Leukoencephalopathy With Vanishing White Matter 2	Premature ovarian insufficiency, Optic atrophy, Secondary amenorrhea, Cataract	OMIM:620312
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Decreased serum testosterone c...	ORPHA:495875
Charcot-Marie-Tooth Disease Type 1F	Demyelinating sensory neuropathy, Mixed demyelinating and axonal polyneuropathy, Decreased nerve ...	ORPHA:101085
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Failure to thrive, Camptodactyly of finger, Decreased nerve conduction velocity, Intrauterine gro...	OMIM:604320
Hereditary Motor And Sensory Neuropathy V	Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Hammertoe	OMIM:600361
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:617182
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Clinodactyly of the 5th finger, Increased femoral anteversion, Optic nerve hypoplasia	OMIM:620502
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Micrognathia, Hypoplasia of the corpus callosum, Brachydactyly, Clinodactyly of the 5th finger, O...	OMIM:618381
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella	OMIM:620196
Microphthalmia/Coloboma 5	Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Holoprosencephaly...	OMIM:611638
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of finger, Cataract, Hypoplastic cervical vertebrae, Optic disc hypoplasia, ...	ORPHA:79345
Spermatogenic Failure 41	Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility	OMIM:618670
Autosomal Recessive Spastic Paraplegia Type 46	Cataract, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Decreased testicular s...	ORPHA:320391
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor...	ORPHA:97341
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Charcot-Marie-Tooth Disease, Axonal, Type 2Y	Decreased motor nerve conduction velocity, Hammertoe	OMIM:616687
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
X-Linked Charcot-Marie-Tooth Disease Type 3	Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Demyelinating peripheral...	ORPHA:101077
Neonatal Adrenoleukodystrophy	Optic atrophy, Cataract, Primary adrenal insufficiency, Abnormality of retinal pigmentation, Abno...	ORPHA:44
4H Leukodystrophy	Optic atrophy, Cataract, Cerebellar atrophy, Decreased response to growth hormone stimulation tes...	ORPHA:289494
Marshall-Smith Syndrome	Hypoplasia of the odontoid process, Cryptorchidism, Hypoplasia of the corpus callosum, Decreased ...	OMIM:602535
Childhood Absence Epilepsy	Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior	ORPHA:64280
Alport Syndrome 3A, Autosomal Dominant	Lenticonus, Anterior polar cataract	OMIM:104200
Spondylodysplastic Ehlers-Danlos Syndrome	Megalocornea, Subluxation of the small joints of the hand, Micrognathia, Dysplasia of the femoral...	ORPHA:536471
Congenital Disorder Of Glycosylation, Type Iq	Cerebellar vermis hypoplasia, Optic atrophy, Cataract, Failure to thrive, Polymicrogyria, Colobom...	OMIM:612379
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:612997
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	OMIM:618912
Charcot-Marie-Tooth Disease, Type 4B2	Ulnar claw, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated ...	OMIM:604563
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis	OMIM:612577
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Ritscher-Schinzel Syndrome 3	Cerebellar vermis hypoplasia, Short 1st metacarpal, Chorioretinal coloboma, Short first metatarsa...	OMIM:619135
Osteoporosis-Pseudoglioma Syndrome	Exudative vitreoretinopathy, Abnormal lower limb bone morphology, Microphthalmia, Abnormal vitreo...	ORPHA:2788
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact...	OMIM:620141
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel...	ORPHA:506353
Sialidosis Type 1	Cataract, Cherry red spot of the macula, Decreased nerve conduction velocity, Retinopathy, EEG ab...	ORPHA:812
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration, Microcephaly, Intrauterine growth retardation, Corneal opacity	ORPHA:1980
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi...	OMIM:613731
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V...	OMIM:143200
Cataract 11, Multiple Types	Cataract, Developmental cataract, Microphthalmia	OMIM:610623
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir...	ORPHA:179
Periventricular Nodular Heterotopia 7	Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2...	OMIM:617201
Shukla-Vernon Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity	OMIM:301029
Microphthalmia, Syndromic 13	Microcornea, Chorioretinal coloboma, Microcephaly, Microphthalmia, Short stature, Iris coloboma	OMIM:300915
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lateral ventricle dilatation, EEG with generalized sharp slow waves, Polymicrogyria, Cerebral atr...	ORPHA:79243
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cataract, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Hypoplasia of the brainstem,...	OMIM:224050
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Oculocerebrocutaneous Syndrome	Cryptorchidism, Anophthalmia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Orb...	OMIM:164180
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Peripheral demyelination, Onion bulb formation	OMIM:608236
Autosomal Recessive Spastic Paraplegia Type 67	Cerebral cortical atrophy, Abnormal myelination, Aplasia/Hypoplasia of the cerebellar vermis, Age...	ORPHA:401820
Tatton-Brown-Rahman Syndrome	Chiari type I malformation, Optic nerve hypoplasia	OMIM:615879
Leber Congenital Amaurosis 1	Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d...	OMIM:204000
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Aplasia of the vagina, Agenesis of corpus callosum, Postaxial polydactyly, Aplasia ...	ORPHA:457284
Juvenile Huntington Disease	Dementia, Depression, Hyperactivity, Irritability	ORPHA:248111
Bardet-Biedl Syndrome 9	Irregular menstruation, Cataract, Postaxial foot polydactyly, Obesity, Attenuation of retinal blo...	OMIM:615986
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:601596
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Motor stereotypy	OMIM:613886
Familial Exudative Vitreoretinopathy	Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret...	ORPHA:891
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Supernumerary nipple, Hypogonadism, Decreased fertility, Abnormality of retinal pi...	ORPHA:1173
Ataxia-Pancytopenia Syndrome	Decreased nerve conduction velocity, Cerebellar atrophy	OMIM:159550
Trisomy 13	Optic atrophy, Cataract, Chiari malformation, Ectrodactyly, Abnormal morphology of female interna...	ORPHA:3378
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hypopigmented skin patches, Cerebral atrophy, Decreased nerve conduction velocity, Short-segment ...	OMIM:609136
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Cerebral cortical atrophy, Failure to thrive, Hypoplasia of the corpus callosum, Microcephaly, EE...	OMIM:617864
Cerebrotendinous Xanthomatosis	Myelopathy, Abnormal motor evoked potentials, Abnormal tibia morphology, Abnormal retinal vascula...	ORPHA:909
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12	Decreased motor nerve conduction velocity	OMIM:614751
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Attention deficit hyperactivity disorder, Depression, Motor stereotypy, Cognitive impairment	ORPHA:98784
Premature Ovarian Failure 12	Microphthalmia, Macular dystrophy, Primary amenorrhea	OMIM:616947
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Failure to thrive, Cryptorchidism, Hypothyroidism, Delayed puberty, ...	ORPHA:95496
19P13.13 Microdeletion Syndrome	Optic atrophy, Clinodactyly, Sandal gap, Hypoplasia of the frontal lobes, Chiari type I malformat...	ORPHA:357001
Choroideremia	Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm...	OMIM:303100
Pancreatic And Cerebellar Agenesis	Optic nerve hypoplasia, Pancreatic hypoplasia, Failure to thrive, Cerebellar agenesis, Overlappin...	OMIM:609069
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Microgn...	OMIM:256600
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Deafness-Infertility Syndrome	Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Blue Cone Monochromatism	Corneal dystrophy, Abnormality of retinal pigmentation	ORPHA:16
Adrenal Hypoplasia, Congenital	Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu...	OMIM:300200
Baller-Gerold Syndrome	Chiari malformation, Carpal synostosis, Micrognathia, Patellar aplasia, Perineal fistula, Aphalan...	OMIM:218600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Cataract, Retinal dysplasia, Polymicrogyria, Type II lissencephaly, Agyria, Hypopl...	OMIM:253800
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre...	OMIM:608673
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity	OMIM:300928
Prune1-Related Neurological Syndrome	Optic atrophy, Cataract, Cerebellar atrophy, Cerebral atrophy, Micrognathia, Retinopathy, Microce...	ORPHA:544469
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination	OMIM:249900
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Agenesis of corpu...	ORPHA:95494
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma, Microphthalmia	OMIM:120433
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Pigmentary retinopathy, Absence of secondary sex characteris...	ORPHA:2235
Congenital Rubella Syndrome	Cataract, Type I diabetes mellitus, Intrauterine growth retardation, Microphthalmia, Abnormality ...	ORPHA:290
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Motor stereotypy	OMIM:619690
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Abnormality of the uterus, Fusion of the cerebellar hemisph...	ORPHA:59315
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Astigmatism, Microcephaly, Retinal deta...	OMIM:152950
Cerebral Visual Impairment	Optic atrophy, Microcephaly, Hydrocephalus, Retinopathy of prematurity, Optic disc pallor, Increa...	ORPHA:447788
Idiopathic Uveal Effusion Syndrome	Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Microph...	ORPHA:209956
Marinesco-Sjögren Syndrome	Severe short stature, Optic atrophy, Cataract, Hypogonadism, External genital hypoplasia, Avascul...	ORPHA:559
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Decreased compound muscle action potential amplitude, Hammertoe, Compound muscle action potential...	OMIM:616040
Neuropathy, Hereditary, With Liability To Pressure Palsies	Froment sign, Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction ...	OMIM:162500
Hereditary Liability to Pressure Palsies (HNPP)	Motor conduction block, Abnormal motor neuron morphology	DECIPHER:31
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Nodular Neuronal Heterotopia

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