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, Zonular cataract, Micrognathia, Decreased circulating plasmalogen concentration, Opti... 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, Deficit in phonologic short-term memory, Emotional lability, Attention defi... ORPHA:280397
Basal Ganglia Calcification, Idiopathic, 4
Bipolar affective disorder, Attention deficit hyperactivity disorder, Dementia, Depression OMIM:615007
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivi... ORPHA:468726
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Motor tics OMIM:300830
Gilles De La Tourette Syndrome
Aggressive behavior, Echolalia, Attention deficit hyperactivity disorder, Phonic tics, Motor tics... OMIM:137580
Intellectual Developmental Disorder, Autosomal Recessive 25
Delayed speech and language development, Anxiety OMIM:614346
Intellectual Developmental Disorder, Autosomal Recessive 37
Delayed speech and language development, Hyperactivity, Aggressive behavior, Bruxism OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Delayed speech and language development, Hyperactivity, Aggressive behavior, Bruxism ORPHA:356996
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Social and occupational deterioration, Impaired social interact... ORPHA:168782
Early-Onset Schizophrenia
Suicidal ideation, Lack of peer relationships, Low self esteem, No social interaction, Shyness, C... ORPHA:96369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar cyst, Hydroc... OMIM:615181
Obsessive-Compulsive Disorder
Collectionism, Skin-picking, Depression, Anxiety OMIM:164230
Behavioral Variant Of Frontotemporal Dementia
Restlessness, Inappropriate behavior, Frontotemporal dementia, Aggressive behavior, Emotional blu... ORPHA:275864
Intellectual Developmental Disorder, X-Linked 63
Delayed speech and language development, Anxiety OMIM:300387
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Periventricular heterotopia, Optic atrophy, Cerebellar hypoplasia, Simplified gyral ... OMIM:616171
Congenital Muscular Dystrophy With Cerebellar Involvement
Coloboma, Optic atrophy, Optic nerve hypoplasia, Type II lissencephaly, Olivopontocerebellar hypo... ORPHA:370959
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Delayed speech and language development, Recurrent hand flapp... ORPHA:100973
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior, Absent speech OMIM:607417
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Delayed speech and language development, Recurrent hand flapp... OMIM:309548
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Decreased body weight, Short stature, EEG abnormality, Lissencephaly, Optic nerve hypoplasia, Mic... OMIM:614833
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Self-injurious behavior, Absent speech, Anxiety OMIM:619031
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of skin pigmentation, Short stature, Cerebellar hypoplasia, Simplified ... OMIM:251270
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Delayed speech and language development, Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3
Delayed speech and language development, Hyperactivity OMIM:608443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Coloboma, Optic atrophy, Retinal atrophy, Micrognathia, Meningoencephalocele, Optic nerve hypopla... OMIM:236670
Basal Ganglia Calcification, Idiopathic, 5
Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Motor tics OMIM:615483
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Lissencephaly, Optic nerve hypoplasia, Type II lissencephaly, Peters anomaly, Polymicrogyria, Gra... OMIM:614643
Isolated Optic Nerve Hypoplasia/Aplasia
Pseudopapilledema, EEG abnormality, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilat... ORPHA:137902
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Optic atrophy, Cerebellar hypoplasia, External genital hypoplasia, Mi... OMIM:600118
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Hypoplasia of the brainstem, Perisylvian polymicrogyria, Aganglionic me... ORPHA:171680
Cofs Syndrome
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Optic atrophy, Hypogonadism, Sho... ORPHA:1466
X-Linked Intellectual Disability, Najm Type
Cerebral cortical atrophy, Optic atrophy, Cerebellar hypoplasia, Micrognathia, Optic nerve hypopl... ORPHA:163937
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir... ORPHA:231736
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Micrognathia, Optic nerve hypoplasia, Delayed puberty, Cataract, Peripheral axonal... ORPHA:496790
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Microphthalmia, Fr... OMIM:218670
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Chorioretinal coloboma, Cataract, Cryptorchidism OMIM:274205
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Delayed speech and language development, Hyperactivity, Abnormal social behavior ORPHA:436151
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect, Retinal dysplasia, Type II lissencephaly, Gonadal dysge... OMIM:615041
Fanconi Anemia, Complementation Group I
Hypothyroidism, Absent thumb, Decreased body weight, Decreased response to growth hormone stimula... OMIM:609053
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Cerebellar hypoplasia, Simplified gyral pattern, Arrhinencephaly, Optic nerve hypo... OMIM:617914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Cerebellar dysplasia, Coloboma, Cerebellar hypoplasia, Simplified gy... OMIM:613153
Pandas
Abnormal fear/anxiety-related behavior, Separation insecurity, Tics, Emotional lability, Impulsiv... ORPHA:66624
Bresek Syndrome
Decreased testicular size, Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Iris col... ORPHA:85284
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Hypogonadism, Short stature, Abnormal CNS myelination, Cataract, Decreased nerve c... OMIM:610651
Hartnup Disorder
Delayed speech and language development, Hyperactivity, Attention deficit hyperactivity disorder,... OMIM:234500
Chorea, Benign Hereditary
Dementia, Anxiety OMIM:118700
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Developmental And Epileptic Encephalopathy 104
Delayed speech and language development, Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Irritability, Absent speech OMIM:616657
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short toe, Hyperinsulinemia, Short stature, Secondary amenorrhea, Decreased testicular size, Type... ORPHA:3085
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Central heterochromia, Small for gestation... OMIM:275400
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Warburg Micro Syndrome 4
Cerebral cortical atrophy, Perisylvian polymicrogyria, Optic atrophy, Short stature, Decreased te... OMIM:615663
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Infertility, Rod-cone dystrophy, Cataract OMIM:300719
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Attention deficit hyperactivity disorder, Depression, Anxiety OMIM:619191
Dystonia 11, Myoclonic
Anxiety, Depression, Panic attack, Agoraphobia, Alcoholism OMIM:159900
Retinitis Punctata Albescens
Retinal atrophy, Retinal pigment epithelial mottling, Lenticonus, Macular atrophy, Attenuation of... ORPHA:52427
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Microphthalmia, Syndromic 5
Coloboma, Anophthalmia, Short stature, Retinal dystrophy, Microcornea, Ectopic posterior pituitar... OMIM:610125
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
Null Syndrome
Abnormality of peripheral nerve conduction, Abnormal cerebellum morphology, Optic atrophy, Demyel... ORPHA:280234
Childhood-Onset Benign Chorea With Striatal Involvement
Dementia, Anxiety ORPHA:494541
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:98798
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Rod-cone dystrophy, Optic atrophy, Demyelinating peripheral neuropathy, Cataract, Decreased nerve... OMIM:612674
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Polymicrogyria, Optic nerve hypoplasia, Dysplastic corpus callosum, ... ORPHA:250972
Ring Chromosome Y Syndrome
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno... ORPHA:261529
Hyperlysinemia, Type I
Delayed speech and language development, Hyperactivity, Cognitive impairment OMIM:238700
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Motor axonal neuropathy, EEG abnormality, Sensory axonal neuropathy, Decreased ner... ORPHA:457205
Lissencephaly 8
Retrocerebellar cyst, Hypoplasia of the brainstem, Optic atrophy, Cerebellar hypoplasia, Agyria, ... OMIM:617255
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Stereotypical hand wringing, Impaired social interactions, Inappropriate... ORPHA:397933
Leukodystrophy, Hypomyelinating, 18
Demyelinating peripheral neuropathy, Failure to thrive, Secondary microcephaly, Decreased nerve c... OMIM:618404
Trichothiodystrophy 5, Nonphotosensitive
Global brain atrophy, Short stature, Cerebellar hypoplasia, Decreased testicular size, Retinal dy... OMIM:300953
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Craniotelencephalic Dysplasia
Optic atrophy, Cerebellar hypoplasia, Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, Liss... ORPHA:1528
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Micrognathia, Bilateral cryptorchidism, Optic nerve hypoplasia,... OMIM:618156
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Abnormally large globe, Hypoplasia of the brainstem, Decreased body wei... OMIM:300749
Microlissencephaly
Subcortical heterotopia, Cerebral cortical atrophy, Periventricular heterotopia, Simplified gyral... ORPHA:1083
Myoclonus-Dystonia Syndrome
Compulsive behaviors, Panic attack, Depression, Anxiety, Personality disorder ORPHA:36899
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Ocular anterior segment dysgenesis, Hydrocephalus, Cerebellar malformation, Development... ORPHA:324416
Huntington Disease-Like 1
Aggressive behavior, Dementia, Depression, Anxiety, Restlessness OMIM:603218
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased serum estradiol, Short stature, Decreased testicular size, Peripheral axonal degenerati... OMIM:604168
Microphthalmia, Syndromic 3
Anterior pituitary hypoplasia, Vertebral hypoplasia, Coloboma, Anophthalmia, Short stature, Agene... OMIM:206900
Chromosome 2P16.1-P15 Deletion Syndrome
Hypogonadism, Short stature, Decreased testicular size, EEG abnormality, Intrauterine growth reta... OMIM:612513
Rhizomelic Chondrodysplasia Punctata, Type 2
Rhizomelia, Zonular cataract, Micrognathia, Decreased circulating plasmalogen concentration, Opti... OMIM:222765
Lissencephaly 1
Gray matter heterotopia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Lissencephal... OMIM:607432
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Delayed speech and language development, Attention deficit hyperactivity disorder, Anxiety OMIM:618878
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Short stature, Delayed CNS myelination, Peripheral axonal neuropathy, Microcephaly, Cerebral atro... OMIM:619090
Bornholm Eye Disease
Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the frontal lobes, Lissencephaly, Optic nerve hypoplasia, Attenuation of retinal bl... ORPHA:468631
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Aggressive behavior, Anxiety, Delayed speech and language development, Abnormal so... ORPHA:101039
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Abnormality of somatosensory evoked potentials, Diffuse peripheral demyel... ORPHA:206594
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Short stature, Microcornea, Cataract, Microphthalmia, Microcephaly, Growth delay ORPHA:2528
Walker-Warburg Syndrome
Abnormality of neuronal migration, Optic atrophy, Lissencephaly, Iris coloboma, Abnormal optic ne... ORPHA:899
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Delayed speech and language development, Bipolar affective disorder, Absent speech... OMIM:619927
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Global brain atrophy, Short stature, Cerebellar hypoplasia, Small for gestational age, Intrauteri... OMIM:301056
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Small hand, Normal pressure hydrocephalus, Primary microcephaly, Sim... ORPHA:300570
Schizophrenia 15
Hyperactivity OMIM:613950
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Abnormality of peripheral nerve conduction, Motor axonal neuropathy, S... ORPHA:48431
Optic Atrophy 11
Optic atrophy, Cerebellar hypoplasia, Short stature, EEG with focal sharp waves, Optic nerve hypo... OMIM:617302
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr... OMIM:609260
Huntington Disease-Like 2
Inertia, Apathy, Dementia, Depression, Anxiety, Subcortical dementia, Irritability, Memory impair... OMIM:606438
Septo-Optic Dysplasia Spectrum
Aplasia/Hypoplasia of the cerebellum, Diabetes insipidus, Anterior pituitary hypoplasia, Short st... ORPHA:3157
Cardiofaciocutaneous Syndrome 4
Cafe-au-lait spot, Decreased response to growth hormone stimulation test, Short stature, Cerebell... OMIM:615280
Landau-Kleffner Syndrome
Hyperactivity, Aggressive behavior, Social and occupational deterioration, Emotional lability, Sp... ORPHA:98818
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Dandy-Walker malformation, Optic nerve hypoplasia, Spina bifida occ... OMIM:618736
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Cataract, Decreased nerve conduction velocity, Growth delay OMIM:614932
Micro Syndrome
Cerebral cortical atrophy, Optic atrophy, Micrognathia, Lissencephaly, Abnormal cerebellum morpho... ORPHA:2510
Chudley-Mccullough Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Partial agen... OMIM:604213
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decr... OMIM:601098
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Abnormal myelination, Aplasia/Hypoplasia of the cerebellar vermis, Cat... ORPHA:401830
Pierson Syndrome
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... OMIM:609049
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Axonal loss, Decreased motor nerve conduction velocity, Peripheral hypomyel... OMIM:611228
Septooptic Dysplasia
Diabetes insipidus, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulati... OMIM:182230
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Hypogonadism, Hydrocephalus, Cataract, Microphthalmia, Cryptorchidism, Obesit... OMIM:601794
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Premature ovarian insufficiency, Decreased nerve conduction velocity, Truncal obes... ORPHA:2928
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Delayed myelination, Hyperopic astigmatism, Micrognathia, Optic nerve hypoplasia, Astigmatism, Hy... ORPHA:363686
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Stromme Syndrome
Cerebellar hypoplasia, Micrognathia, Retinal vascular tortuosity, Agenesis of corpus callosum, Hy... OMIM:243605
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:118210
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Focal polymicrogyria, Hypoplasia of the brainstem, Primary microcephaly... OMIM:615771
Cednik Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy, Hypogonadism, Short stature, Microceph... ORPHA:66631
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism, Large for gestational age, Aplasia/Hypoplasia of the optic nerve, Opti... ORPHA:137634
Biemond Syndrome Type 2
Coloboma, Hypogonadism, Short stature, Hydrocephalus, Delayed puberty, Hypospadias, Microphthalmi... ORPHA:141333
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Optic atrophy, Failure to thrive, Microphthalmia, Microcephaly, Cerebral atrophy, Growt... OMIM:274270
Leber Congenital Amaurosis
Encephalocele, Abnormality of neuronal migration, Abnormal optic disc morphology, Abnormality of ... ORPHA:65
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Hypogonadism, Optic atrophy, Type II diabetes melli... ORPHA:791
Cataract-Ataxia-Deafness Syndrome
Short stature, Decreased nerve conduction velocity, Developmental cataract ORPHA:1368
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Weight loss, Vaginal neoplasm, Anterior lenticonus, Failure to thrive, Cataract, Uterine neoplasm... ORPHA:1018
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Micropenis, Agenesis of corpus callos... OMIM:300067
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Cer... OMIM:619389
Optic Atrophy-Intellectual Disability Syndrome
Delayed myelination, Optic atrophy, Short stature, Optic disc hypoplasia, Optic nerve hypoplasia,... ORPHA:401777
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Microcephaly, Pachy... OMIM:615411
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Ambiguous genitalia, Abnormality of neuronal migration, Hyp... ORPHA:2772
Hyperprolinemia, Type I
Delayed speech and language development, Hyperactivity, Aggressive behavior OMIM:239500
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Pierpont Syndrome
Short toe, Decreased body weight, Short foot, Chiari malformation, Short stature, Short finger, A... OMIM:602342
Lissencephaly 5
Gray matter heterotopia, Hypoplasia of the brainstem, Cerebellar hemisphere hypoplasia, Optic atr... OMIM:615191
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Macular Degeneration, Age-Related, 3
Macular degeneration, Choroidal neovascularization, Decreased nerve conduction velocity, Peripher... OMIM:608895
Lissencephaly 3
Gray matter heterotopia, Hypoplasia of the brainstem, Agyria, Cerebellar vermis hypoplasia, Lisse... OMIM:611603
Chromosome 19P13.13 Deletion Syndrome
Chiari type I malformation, Microcephaly, Optic atrophy, Optic nerve hypoplasia OMIM:613638
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Cataract, Microphthalmia, Cryptorc... ORPHA:363741
Krabbe Disease
Optic atrophy, EEG abnormality, CNS demyelination, Hydrocephalus, Diffuse cerebral atrophy, Failu... OMIM:245200
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Optic atrophy, EEG abnormality, Cerebral atrophy, Cerebellar atrophy, Pigmentary ret... OMIM:610951
Intellectual Developmental Disorder, Autosomal Recessive 54
Delayed speech and language development, Attention deficit hyperactivity disorder, Emotional labi... OMIM:617028
Lennox-Gastaut Syndrome
Mental deterioration, Aggressive behavior, Hyperactivity, Personality disorder ORPHA:2382
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Type II diabetes mellitus, Infertility, Azoospermia, Oligospermia, Hypercho... OMIM:615703
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Abnormality of neuronal migration, EEG abnormality, Simplified gyral pat... OMIM:604317
Multiple Mitochondrial Dysfunctions Syndrome 5
Delayed myelination, Leukodystrophy, Microcephaly, Pachygyria, Growth delay, Pigmentary retinopathy OMIM:617613
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Optic nerve hypoplasia OMIM:614306
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral axonal d... OMIM:607706
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Hypsarrhythmia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of... OMIM:618890
Alport Syndrome 1, X-Linked
Corneal erosion, Anterior lenticonus, Lenticonus, Developmental cataract, Hypoparathyroidism OMIM:301050
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Frontotemporal dementia, Inertia, Motor deterioration, Apathy, Dementia, ... ORPHA:412066
Cataract 16, Multiple Types
Retinal dystrophy, Lenticonus, Posterior polar cataract, Developmental cataract OMIM:613763
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Cerebellar hypoplasia, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pa... ORPHA:65288
5Q14.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Frontal cortical atrophy, Agenesis of cerebellar vermis, Optic... ORPHA:228384
Leiomyomatosis, Diffuse, With Alport Syndrome
Failure to thrive, Anterior lenticonus, Lenticonus, Cataract OMIM:308940
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia, Microcephaly OMIM:241000
Cockayne Syndrome
Optic atrophy, Primary microcephaly, Retinal atrophy, Cachexia, Keratoconjunctivitis sicca, Band ... ORPHA:191
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Leber Congenital Amaurosis 2
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... OMIM:204100
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Impulsivity, Irritability, Restlessness OMIM:605899
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Abnormality of peripheral nerve conduct... ORPHA:168563
Alport Syndrome
Macular degeneration, Anterior lenticonus, Posterior subcapsular cataract, Retinal flecks, Recurr... ORPHA:63
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Echolalia, Delayed speech and language development, Recurrent... OMIM:615516
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Pierpont Syndrome
Short toe, Chiari malformation, Abnormal cortical gyration, Primary microcephaly, Small for gesta... ORPHA:487825
2Q24 Microdeletion Syndrome
Coloboma, Small for gestational age, Failure to thrive, Cataract, Microphthalmia, Growth delay, A... ORPHA:1617
Maternal Hyperthermia-Induced Birth Defects
Aplasia/Hypoplasia affecting the eye, Abnormality of neuronal migration, Short stature, EEG abnor... ORPHA:2216
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Cerebrooculofacioskeletal Syndrome 3
Cerebellar hypoplasia, Micrognathia, Microphthalmia, Microcephaly, Intrauterine growth retardatio... OMIM:616570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia, Retinal dystrophy, Hydr... OMIM:613155
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Cognitive impairment, Suicidal ideation, Abnormal repetitive mannerisms, Attention deficit hypera... ORPHA:98784
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Frontotemporal dementia, Hypersexuality, Apathy, Repetitive compulsive behavior, Agitation, Polyp... OMIM:607485
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Micrognathia, Missing ribs, Hydrocephalus, Tetraamelia, Mic... ORPHA:3301
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Decreased motor nerve conduction velocity, Leukodystrophy, Severe short stature, ... OMIM:619851
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Myelin outfolding... OMIM:601382
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Self-injurious behavior, Shyness, Impaired social interaction... ORPHA:449291
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Hypoplasia of the brainstem, Optic atrophy, Cerebellar hypoplasia, Abnor... ORPHA:352682
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Peripheral dysmyelination, Decreased nerve conduction velocity, Periph... ORPHA:101082
Acromelic Frontonasal Dysostosis
Short tibia, Retrocerebellar cyst, Gray matter heterotopia, Patellar hypoplasia, Encephalocele, H... OMIM:603671
Xq25 Microduplication Syndrome
Hyperactivity, Speech articulation difficulties, Anxiety ORPHA:521258
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... ORPHA:399805
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... OMIM:605253
Combined Oxidative Phosphorylation Defect Type 13
Delayed myelination, Developmental cataract, Failure to thrive, Decreased nerve conduction veloci... ORPHA:319514
D-Glyceric Aciduria
Cerebral cortical atrophy, Hypsarrhythmia, Optic nerve hypoplasia, Failure to thrive, Delayed CNS... OMIM:220120
Foxg1 Syndrome
Paroxysmal bursts of laughter, Cognitive impairment, Impaired social interactions, Stereotypical ... ORPHA:561854
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination, Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy, Short stature, Secondary amenorrhea, Polycystic ovari... OMIM:268020
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis ORPHA:1068
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Cerebellar hypoplasia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma, Microcornea OMIM:251505
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cerebellar hypoplasia, Secondary microcephaly, Cataract, Microphthalmia, Cryptorchidism, Optic di... OMIM:613730
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar hemisphere hypoplasia, Primary microcephaly, Small for gestational age, Micrognathia, ... OMIM:615095
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Abnormal motor evoked potentials, Demyelinating sensory neuropathy, Decreased nerve conduction ve... ORPHA:99939
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Motor conduction block, Decreased nerve conduction velocity, ... ORPHA:2932
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609311
Phace Association
Horner syndrome, Optic atrophy, Cerebellar hypoplasia, Developmental cataract, Optic nerve hypopl... OMIM:606519
Ataxia-Deafness-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Decreased nerve conduction velocity ORPHA:1188
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal neovascularization,... OMIM:106210
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short 4th metacarpal, Short stature, Hydrocephalus, Azoospermia, Hypergonadotropic hypogonadism, ... ORPHA:2183
Combined Oxidative Phosphorylation Defect Type 39
Abnormal cerebellum morphology, Lateral ventricle dilatation, Cerebellar hypoplasia, EEG abnormal... ORPHA:565624
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior, Delayed speech and languag... OMIM:618718
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Hypoplasia of the brainstem, Coloboma, Cerebellar hypoplasia, Retinal deg... OMIM:615249
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Decreased motor nerve conduction velocity, Micrognathia, Microcephaly, Cryptorchid... OMIM:615419
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Inappropriate laughter, Aggressive behavior, Delayed speech and language development, Bruxism OMIM:619150
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Retinal dystrophy, Inferior cerebellar vermis hypoplasia, Agenesis of corpus callos... ORPHA:139471
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, EEG with focal slow activity, Abnormality of neuronal migration, EEG wit... ORPHA:101029
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Hypogonadism, Decreased testicular size, Cerebellar hypoplasia, EEG abnormality, S... ORPHA:261349
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... DECIPHER:29
Ring Chromosome 21 Syndrome
Diabetes insipidus, Small hand, Short stature, EEG abnormality, Infertility, Azoospermia, Holopro... ORPHA:1445
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting,... OMIM:619827
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Delayed speech and language development, Absent speech, Impulsivity, Attention def... OMIM:301008
49,Xyyyy Syndrome
Primary gonadal insufficiency, Short 5th finger, Abnormality of the testis size, External genital... ORPHA:99330
Alport Syndrome 2, Autosomal Recessive
Cataract, Anterior lenticonus, Corneal erosion OMIM:203780
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Micrognathia, Optic nerve hypoplasia, Astigmatism, Cryptorchidism, H... ORPHA:261250
Cockayne Syndrome A
Optic atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Microcephaly, Cryptorchidism... OMIM:216400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:607734
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Postnatal growth retardation, Developmental c... OMIM:133540
Liberfarb Syndrome
Short stature, Retinal degeneration, Retinal pigment epithelial mottling, Bone spicule pigmentati... OMIM:618889
Intellectual Developmental Disorder, X-Linked 104
Delayed speech and language development, Hyperactivity, Aggressive behavior, Absent speech OMIM:300983
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Corneal opacity, Large for gestational age, Microcornea ORPHA:2432
Spinocerebellar Ataxia 32
Cerebellar atrophy, Testicular atrophy, Infertility, Azoospermia OMIM:613909
Morm Syndrome
Delayed speech and language development, Hyperactivity, Aggressive behavior ORPHA:75858
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Onion bulb formation, Demyelinating peripheral neuropathy, Decreased motor nerve conduction veloc... OMIM:218000
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Aplasia/Hypoplasia of the cerebellum, Pachygyria, Optic nerve hypoplasia ORPHA:572013
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Abnormality of peripheral nerve conduction, Axonal degeneration, Decreased amplitude of sensory a... ORPHA:90103
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Cataract, Chorioretinal coloboma, Cryptorchidism, Short thumb, Intrauterine gro... ORPHA:2489
Cerebrooculofacioskeletal Syndrome 1
Delayed myelination, Cerebellar hypoplasia, Small for gestational age, Micrognathia, CNS demyelin... OMIM:214150
Congenital Varicella Syndrome
Cerebral cortical atrophy, Cataract, Microphthalmia, Microcephaly, Micromelia, Intrauterine growt... ORPHA:291
Intellectual Developmental Disorder With Autism And Macrocephaly
Pronoun reversal, Pica, Echolalia, Delayed speech and language development, Recurrent hand flappi... OMIM:615032
Ataxia-Tapetoretinal Degeneration Syndrome
Aplasia/Hypoplasia of the cerebellum, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:605588
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy OMIM:610100
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Decreased motor nerve co... OMIM:618184
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity ORPHA:98890
Charcot-Marie-Tooth Disease Type 1A
Acute demyelinating polyneuropathy, Decreased motor nerve conduction velocity, Demyelinating peri... ORPHA:101081
47,Xyy Syndrome
Macroorchidism, Cerebellar dysplasia, Increased serum testosterone level, Dysgenesis of the cereb... ORPHA:8
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Delayed speech and language development, Hyperactivity, Aggressive behavior OMIM:619470
Cockayne Syndrome Type 3
Retinal hemorrhage, Abnormality of peripheral nerve conduction, Dense calcifications in the cereb... ORPHA:90324
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Cataract, Microphthalmia, Growth delay, Microcephaly OMIM:278780
White-Sutton Syndrome
Rod-cone dystrophy, Short stature, Micrognathia, Optic nerve hypoplasia, Failure to thrive, Iris ... OMIM:616364
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Autosomal Recessive Spastic Paraplegia Type 21
Hypoplasia of the corpus callosum, Abnormality of peripheral nerve conduction, Frontotemporal cer... ORPHA:101001
Cach Syndrome
Cerebellar vermis atrophy, Optic atrophy, Secondary amenorrhea, Premature ovarian insufficiency, ... ORPHA:135
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Microphthalmia, Isolated 8
Anophthalmia, Hypoplastic optic chiasm, Optic nerve hypoplasia, True anophthalmia, Microphthalmia... OMIM:615113
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:600882
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Motor conduction block, Demyelinating peripheral neuropathy, Decreased... ORPHA:99948
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sensory nerve conductio... OMIM:608323
Gand Syndrome
Language impairment, Hyperactivity, Inappropriate laughter, Tics OMIM:615074
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Hydrocephalus, Retinal dysplasia, Type II lissencephaly, Microphthalmia OMIM:614830
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Micrognathia, Failure to thrive, Decreased nerve conduction velocity, Microceph... OMIM:618356
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Fg Syndrome Type 1
Aplasia/Hypoplasia of the corpus callosum, Abnormal cerebellum morphology, Short stature, Microgn... ORPHA:93932
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of large periphe... OMIM:605285
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis OMIM:251750
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Hyperpigmented nevi, Optic nerve hypoplasia, Bilateral microphthalmos, S... OMIM:607597
Adams-Oliver Syndrome 2
Retrocerebellar cyst, Optic atrophy, Cerebellar hypoplasia, Lateral ventricle dilatation, Microgn... OMIM:614219
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col... ORPHA:1473
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Small hand, Premature graying of hair, Sho... OMIM:300845
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Micrognathia, CNS demyelination, Astigmatism, Hypospadias, Iris coloboma, Peters a... ORPHA:494344
Senior-Loken Syndrome
Short stature, Premature ovarian insufficiency, Retinal dystrophy, Abnormality of retinal pigment... ORPHA:3156
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia, Microcephaly OMIM:616335
Acromicric Dysplasia
Small hand, Short metacarpal, Severe short stature, Decreased nerve conduction velocity, Short palm ORPHA:969
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:214400
Posterior Column Ataxia With Retinitis Pigmentosa
Rod-cone dystrophy, Peripheral demyelination, Optic atrophy, Bone spicule pigmentation of the ret... OMIM:609033
Phace Syndrome
Hypothyroidism, Retinal vascular malformation, Cerebellar hypoplasia, Agenesis of corpus callosum... ORPHA:42775
Hemimegalencephaly
Gray matter heterotopia, Optic atrophy, EEG with polyspike wave complexes, EEG with burst suppres... ORPHA:99802
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Microphthalmia, Progressive cataract OMIM:604219
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Premature graying of hair, Short stature, ... ORPHA:280679
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Abnormal cerebellum morphology, Decreased motor nerve conduction velocity, ... OMIM:610532
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Postnatal growth retardation, Hydrocephalus, Optic nerve hypoplasia,... OMIM:605627
Juvenile Neuronal Ceroid Lipofuscinosis
Cognitive impairment, Motor deterioration, Dementia, Emotional lability, Abnormal repetitive mann... ORPHA:79264
Gombo Syndrome
Delayed puberty, Microphthalmia, Microcephaly OMIM:233270
Phenylketonuria
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Depression, Anxiety... OMIM:261600
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral cortical atrophy, Decreased testicular size, Infertility, Reduced sperm motility, Catara... ORPHA:320391
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Onion... OMIM:607684
Vici Syndrome
Gray matter heterotopia, Cerebral cortical atrophy, Hypopigmentation of the skin, Optic atrophy, ... ORPHA:1493
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Self-injurious behavior, Delayed speech and language developm... OMIM:619467
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Anophthalmia, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:616428
Congenital Muscular Dystrophy With Intellectual Disability
Cerebral cortical atrophy, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Micropenis, Micro... ORPHA:370968
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Hypsarrhythmia, Agyria, EEG with changes in voltage, Pachygyria ORPHA:1084
Coffin-Siris Syndrome 8
Hyperactivity, Aggressive behavior, Self-injurious behavior, Delayed speech and language developm... OMIM:618362
Warburg Micro Syndrome 3
Cerebral cortical atrophy, Optic atrophy, Decreased testicular size, Micrognathia, Hypoplastic la... OMIM:614222
Choreoacanthocytosis
Aggressive behavior, Tics, Dementia, Emotional lability, Self-mutilation of tongue and lips due t... OMIM:200150
Maternal Uniparental Disomy Of Chromosome X
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:261519
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Microcephaly, Decreased nerve conduction velocity, Myelin outfoldings OMIM:615284
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Absent scrotum, Cerebellar hypoplasia, Absence of labia majora, Micrognathia, Hypoplastic labia m... ORPHA:495875
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cerebellar vermis atrophy, Cataract, Delayed CNS myelination, Microcephaly, Cerebral atrophy, Gro... OMIM:616154
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Coloboma OMIM:613703
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:619177
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cerebellar cortical atrophy, Optic atrophy, Generalized hypopigmentation, Decreased testicular si... OMIM:619321
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:180800
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Nabais Sa-De Vries Syndrome, Type 1
Simplified gyral pattern, Primary microcephaly, Optic nerve hypoplasia OMIM:618828
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Abnormal cerebellum morphology, Optic atrophy, Retinal degeneration, Macular ... OMIM:204200
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Self-injurious behavior, Delayed speech and language development, Abnormal r... ORPHA:313892
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Iris coloboma, Holoprosencephaly, Microphthalmia, Chorior... OMIM:611638
Foveal Hypoplasia 2
Posterior embryotoxon, Foveal hyperpigmentation, Optic nerve misrouting, Axenfeld anomaly, Astigm... OMIM:609218
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Chromosome Xq25 Duplication Syndrome
Delayed speech and language development, Hyperactivity, Anxiety OMIM:300979
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Aggressive behavior, Motor deterioration, Delayed speech and language development,... ORPHA:168491
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
X-Linked Charcot-Marie-Tooth Disease Type 3
Demyelinating peripheral neuropathy, Decreased motor nerve conduction velocity, Peripheral axonal... ORPHA:101077
Spermatogenic Failure 17
Male infertility OMIM:617214
Warburg Micro Syndrome 2
Global brain atrophy, Optic atrophy, Hypoplastic labia majora, Developmental cataract, Microcorne... OMIM:614225
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Decreased number of large peripheral myelinated nerve fibers... ORPHA:101085
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Axonal loss, Peripheral axonal degeneration, Decreased number of small... ORPHA:101097
4H Leukodystrophy
Decreased response to growth hormone stimulation test, Abnormality of thyroid physiology, Optic a... ORPHA:289494
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... ORPHA:52901
Microphthalmia, Isolated 4
Absent testis, Microphthalmia, Coloboma OMIM:613094
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Coloboma, Optic atrophy, Cerebellar vermis hypoplasia, Failure ... OMIM:612379
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:605726
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Impaired social interactions, Absent speech, Attention defici... OMIM:610042
Martsolf Syndrome 2
Decreased body weight, Short stature, Lateral ventricle dilatation, Developmental cataract, Catar... OMIM:619420
Childhood Absence Epilepsy
Punding, Abnormal social behavior, Low self esteem, Attention deficit hyperactivity disorder, Dep... ORPHA:64280
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Alport Syndrome 3, Autosomal Dominant
Anterior polar cataract, Lenticonus OMIM:104200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118220
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Intrauterine growth retardation, Abnormality of neuronal migration, Microcephaly ORPHA:1980
Sialidosis Type 1
Retinopathy, Short stature, EEG abnormality, Cataract, Decreased nerve conduction velocity, Corne... ORPHA:812
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract OMIM:610623
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Optic atrophy, Short stature, EEG abnormality, Primary adrenal... ORPHA:44
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Cognitive impairment, Echolalia, Agitation, Emotional lability, Abnormal repetitive mannerisms, A... ORPHA:927
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Thyroid hypoplasia, Optic nerve hypoplasia, Pituitary dwarfism, Decreased circulating T4 concentr... ORPHA:226307
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Growth delay, Fundus atrophy, ... OMIM:204000
Autosomal Recessive Spastic Paraplegia Type 67
Aplasia/Hypoplasia of the cerebellar vermis, Abnormal myelination, Cerebral cortical atrophy, Age... ORPHA:401820
Cerebrooculofacioskeletal Syndrome 2
Small for gestational age, Micrognathia, Developmental cataract, Cataract, Microcephaly, Micropht... OMIM:610756
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Hyporeflective spaces on macular OCT, Choriocapillaris atroph... ORPHA:59181
Microphthalmia, Syndromic 13
Short stature, Microcornea, Iris coloboma, Microphthalmia, Microcephaly, Chorioretinal coloboma OMIM:300915
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Anophthalmia, Orbital encephalocele, Agenesis of corpus callosum, Microp... OMIM:164180
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior, Delayed speech and languag... ORPHA:228402
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Bruxism, Hyperactivity, Absent speech OMIM:300434
Retinitis Pigmentosa 4
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:613731
Ritscher-Schinzel Syndrome 3
Short first metatarsal, Short 1st metacarpal, Micrognathia, Shortening of all distal phalanges of... OMIM:619135
Baraitser-Winter Syndrome 1
Short stature, Lissencephaly, Failure to thrive, Iris coloboma, Microcephaly, Pachygyria, Cryptor... OMIM:243310
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular size, Absence of secon... ORPHA:432
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short 5th finger, Coloboma, Short stature, Facial palsy, Micrognathia, Spina bifida, Abnormal opt... ORPHA:508498
Tatton-Brown-Rahman Syndrome
Chiari type I malformation, Optic nerve hypoplasia OMIM:615879
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Hypoplasia of the brainstem, Short stature, Cerebellar hypoplasia, Simplified gyral pattern, Infe... OMIM:224050
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Moderately short stature, Hyporeflective spaces on macular OCT, Central retinal vessel vascular t... ORPHA:506353
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye... OMIM:162500
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lateral ventricle dilatation, Small for gestational age, EEG with focal spikes, Cerebellar cyst, ... ORPHA:79243
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Brachytelephalangic Chondrodysplasia Punctata
Vertebral hypoplasia, Optic disc hypoplasia, Short distal phalanx of toe, Optic nerve hypoplasia,... ORPHA:79345
Cerebral Visual Impairment
Optic atrophy, Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Optic disc pallor, Retinopath... ORPHA:447788
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Degeneration of anterior horn cells, Small for gestational age, Peripheral axonal degeneration, F... OMIM:604320
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape, Optic atrophy, EEG abnormality, Hypsarrhythmia, Secondary microceph... ORPHA:485421
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Decreased nerve conduction velocity OMIM:159550
Pituitary Stalk Interruption Syndrome
Primary amenorrhea, Hypothyroidism, Diabetes insipidus, Short stature, Septo-optic dysplasia, Hyp... ORPHA:95496
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia, Primary amenorrhea OMIM:616947
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Short stature, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly, Micro... OMIM:610023
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity OMIM:249900
Charcot-Marie-Tooth Disease, Type 4C
Segmental peripheral demyelination, Peripheral axonal degeneration, Decreased motor nerve conduct... OMIM:601596
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:145900
Central Areolar Choroidal Dystrophy
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... ORPHA:75377
Intellectual Developmental Disorder, Autosomal Recessive 39
Delayed speech and language development, Hyperactivity, Aggressive behavior OMIM:615541
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Hypoplasia of the corpus callosum, Micrognathia, Optic nerve hypoplasia OMIM:618381
Microspherophakia With Hernia
Retinal detachment, Microspherophakia, Superior lens subluxation OMIM:157150
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Delayed speech and language development, Abnormal repetitive ... ORPHA:391307
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Obesity, Bone spicule pigmentation of the retina, Attenuation of retinal bloo... OMIM:615990
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Decreased sensory nerve con... OMIM:162400
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Aggressive behavior, Anxiety OMIM:609425
Encephalopathy, Progressive, With Or Without Lipodystrophy
Delayed speech and language development, Hyperactivity, Mental deterioration OMIM:615924
Seckel Syndrome 2
Short stature, Cerebellar hypoplasia, Small for gestational age, Micrognathia, Hypospadias, Micro... OMIM:606744
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Decreased fertility, Pigmentary retinopathy, Rod-cone dystrophy, Short stature, Absence of second... ORPHA:2235
Marshall-Smith Syndrome
Short sternum, Decreased body weight, Melanocytic nevus, Short stature, Cerebellar hypoplasia, Bi... OMIM:602535
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:613287
Mitochondrial Neurogastrointestinal Encephalomyopathy
Weight loss, Demyelinating peripheral neuropathy, Decreased motor nerve conduction velocity, Cach... ORPHA:298
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Motor axonal neuropathy, Axonal loss, Dec... ORPHA:98856
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Cerebral cortical atrophy, Short stature, Optic nerve hypoplasia, Failure to thrive, Microcephaly... OMIM:617864
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Choroideremia
Choroideremia, Granular macular appearance, Retinal pigment epithelial mottling, Bone spicule pig... OMIM:303100
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior, Delayed speech and language developm... OMIM:271980
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:120433
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Chronic axonal neuropathy OMIM:606595
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:600361
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Demyelinating peripheral neuropathy, Abnormal autonomic nervous system physiology, Aganglionic me... OMIM:609136
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypoplasia of the brainstem, Encephalocele, Optic atrophy, Cerebellar hypoplasia, Agyria, Cerebel... OMIM:253800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118200
Wilson-Turner Syndrome
Small hand, Short stature, Micrognathia, Cataract, Truncal obesity, Cryptorchidism, Hypogonadotro... ORPHA:3459
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal fold, Optic atrophy, Simplified gyral pattern, Microcornea, Astigmatism, Cataract, Cornea... OMIM:152950
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral axonal d... OMIM:302800
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Rhizomelia, Micrognathia, Cataract, Microphthalmia, Agenesis of corpus callosum ORPHA:93267
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Hemochromatosis, Type 2A
Infertility, Azoospermia, Hypogonadotropic hypogonadism, Hyperpigmentation of the skin, Amenorrhea OMIM:602390
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... OMIM:228300
Juvenile Huntington Disease
Hyperactivity, Irritability, Dementia, Depression ORPHA:248111
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Cerebellar hypoplasia, Optic nerve hypoplasia, Failure to thrive, Diabetes... OMIM:609069
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Short stature, Retinal dystrophy, Bone sp... OMIM:616108
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Micrognathia, Decreased nerve conduction velocity, Cerebral atrophy, Cerebellar at... OMIM:256600
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Motor axonal neuropathy, Axonal loss OMIM:620068
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Obesity, An... OMIM:194072
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Autosomal Recessive Spastic Paraplegia Type 71
Hypoplasia of the corpus callosum, Abnormal myelination ORPHA:401840
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Charcot-Marie-Tooth Disease Type 4G
Motor conduction block, Demyelinating peripheral neuropathy, Decreased motor nerve conduction vel... ORPHA:99953
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Stereotypical hand wringing, Delayed speech and language deve... ORPHA:163681
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology, Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:601455
Nodular Neuronal Heterotopia
Abnormality of neuronal migration, EEG abnormality ORPHA:2149
Trisomy 13
Anophthalmia, Optic atrophy, Chiari malformation, Aplasia/Hypoplasia of the iris, Abnormal retina... ORPHA:3378
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:614895
Baller-Gerold Syndrome
Absent thumb, Chiari malformation, Aplasia of metacarpal bones, Optic atrophy, Micrognathia, Opti... OMIM:218600
Joubert Syndrome 22
Coloboma, Retinal dysplasia, Microphthalmia, Hypoplasia of the corpus callosum, Temporal cortical... OMIM:615665
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Bicornuate uterus, Micrognathia, Cerebellar cyst, Azoospermia, Hypoplasia of the u... OMIM:601076
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma... OMIM:120200
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Hypergonadotropic hypogonadism OMIM:614307
Holoprosencephaly 9
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Anophthalmi... OMIM:610829
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Decreased motor nerve conduction velocity, Leukodystrophy, Cerebral hypomyelinatio... OMIM:608804
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia OMIM:251700
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Microphthalmia, Cataract OMIM:610092
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... ORPHA:85128
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Echolalia, Self-biting, Severe receptive language delay, Abno... ORPHA:3306
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Short stature, Retinal degeneration, Abnormal auditory evoked potentials, Macular atrophy, Attenu... OMIM:619260
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ... OMIM:165550
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity OMIM:615575
Prune1-Related Neurological Syndrome
Retinopathy, Delayed myelination, Optic atrophy, EEG abnormality, Micrognathia, Cataract, Microce... ORPHA:544469
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Delayed myelination, Agenesis of corpus callosum, Hydrocephalus, Optic nerve hypoplasia, Aplasia ... ORPHA:457284
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration, Microcephaly OMIM:618709
Cerebellar Ataxia-Hypogonadism Syndrome
Decreased fertility, Hypogonadism, Optic atrophy, Short stature, Supernumerary nipple, Abnormalit... ORPHA:1173
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Hyperactivity, Abnormal aggressive, ... ORPHA:3077
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Micrognathia, Hypospadias, Decreased compound muscle action ... OMIM:301830
Peroxisomal Acyl-Coa Oxidase Deficiency
Rod-cone dystrophy, Optic atrophy, Leukodystrophy, CNS demyelination, Pigmentary retinopathy OMIM:264470
Zika Virus Disease