| 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 |
|
