Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cognitive impairment, Perisylvian polymicrogyria, Abnormal brainstem morphology, Lateral ventricl... |
ORPHA:300573 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Peho Syndrome |
|
Flexion contracture, Cerebral cortical atrophy, Ventriculomegaly, Porencephalic cyst, Biparietal ... |
ORPHA:2836 |
Craniosynostosis 1 |
|
Oxycephaly, Sagittal craniosynostosis, Scaphocephaly, Turricephaly, Biparietal narrowing, Dolicho... |
OMIM:123100 |
Macrocephaly, Benign Familial |
|
Ventriculomegaly, Macrocephaly, Biparietal narrowing, Dolichocephaly, Frontal bossing |
OMIM:153470 |
Gómez-López-Hernández Syndrome |
|
Brachycephaly, Cognitive impairment, Turricephaly, Abnormal brainstem morphology, Short stature, ... |
ORPHA:1532 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Periventricular cysts, Ventriculomegaly, Abnormal brainstem morphology, Abnormal cerebellum morph... |
ORPHA:255182 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Type 1 muscle fiber predominance, Failure to thrive, Hypoplasia of the pons, Skeletal muscle atro... |
OMIM:618276 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Lissencephaly 4 |
|
Short stature, Primary microcephaly, Cerebellar hypoplasia, Simplified gyral pattern, Lissencepha... |
OMIM:614019 |
X-Linked Intellectual Disability, Cabezas Type |
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Camptodactyly of finger, Hyperactivity, Hypogonadism, Short stature, Macrocephaly, Cachexia, Bipa... |
ORPHA:85293 |
Xp21 Deletion Syndrome |
|
Decreased muscle mass, Calf muscle hypertrophy, Myopathy, Growth delay, Increased muscle fatiguab... |
ORPHA:261476 |
Fetal Alcohol Syndrome |
|
Cognitive impairment, Short stature, Biparietal narrowing, Congenital diaphragmatic hernia, Micro... |
ORPHA:1915 |
1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Short stature, Hydrocephalus, Biparietal narrowing, Frontal bossing, Microcepha... |
ORPHA:238769 |
Chudley-Mccullough Syndrome |
|
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of... |
OMIM:604213 |
Joubert Syndrome With Renal Defect |
|
Molar tooth sign on MRI, Hydrocephalus, Biparietal narrowing, Polymicrogyria, Agenesis of corpus ... |
ORPHA:220497 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Short stature, Biparietal narrow... |
ORPHA:2518 |
Cach Syndrome |
|
Primary amenorrhea, Flexion contracture, Cognitive impairment, Cerebellar vermis atrophy, Lateral... |
ORPHA:135 |
8P23.1 Microdeletion Syndrome |
|
Weight loss, Short stature, Biparietal narrowing, Congenital diaphragmatic hernia, Attention defi... |
ORPHA:251071 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
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Decreased head circumference, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild m... |
ORPHA:500166 |
Joubert Syndrome With Ocular Defect |
|
Molar tooth sign on MRI, Hydrocephalus, Biparietal narrowing, Polymicrogyria, Agenesis of corpus ... |
ORPHA:220493 |
Tetraploidy |
|
Chiari malformation, Biparietal narrowing, Microcephaly, Intrauterine growth retardation |
ORPHA:3305 |
Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Inflammatory ... |
OMIM:123320 |
Isotretinoin Syndrome |
|
Biparietal narrowing, Cognitive impairment |
ORPHA:2305 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Myopathy, Skeletal muscle atrophy, Rhabdomyolysis, Increased muscle fatiguability |
OMIM:615511 |
Joubert Syndrome With Oculorenal Defect |
|
Aplasia/Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Hydrocephalus, Biparietal nar... |
ORPHA:2318 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Brachycephaly, Short stature, Biparietal narrowing, Frontal bossing, Inguinal hernia, Microcephal... |
ORPHA:1292 |
Pontocerebellar Hypoplasia, Type 1A |
|
Hypoplasia of the ventral pons, Cerebral cortical atrophy, Spinal muscular atrophy, Lateral ventr... |
OMIM:607596 |
Linear Nevus Sebaceus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Plagiocephaly, V... |
ORPHA:2612 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Turricephaly, Biparietal narrowing, Moderate postnatal growth retardation, Severe short stature, ... |
ORPHA:1005 |
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Dysphagia, Weakness of facial musculature, Facial palsy, Increased muscle fatiguability |
OMIM:616323 |
Non-Distal Monosomy 10Q |
|
Biparietal narrowing, Cognitive impairment |
ORPHA:1581 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Short stature, Biparietal narrowing, Abnormal calvaria morphology, Intra... |
ORPHA:1323 |
15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Biparietal narrowing, Microcephaly, Short stature |
ORPHA:261190 |
16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Biparietal narrowing, Frontal bossing, Dysphagia, Hypoplasia of the corpus call... |
ORPHA:261250 |
Intellectual Disability, Buenos-Aires Type |
|
Short stature, Biparietal narrowing, Abnormal calvaria morphology, Microcephaly, Umbilical hernia |
ORPHA:3079 |
Monosomy 18Q |
|
Short stature, Cerebellar hypoplasia, Hydrocephalus, Biparietal narrowing, Failure to thrive, Mic... |
ORPHA:1600 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Ventriculomegaly, Type II lissencephaly, Skeletal muscle hypertrophy, Olivopontocerebellar hypopl... |
ORPHA:370959 |
Tubulinopathy-Associated Dysgyria |
|
Ventriculomegaly, Abnormal brainstem morphology, Agyria, Macrocephaly, Hypoplasia of the pons, Ab... |
ORPHA:467166 |
Joubert Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Biparietal narrowing, Hydrocephalus, Cerebellar vermis... |
ORPHA:475 |
Orofaciodigital Syndrome Type 6 |
|
Aplasia/Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Short stature, Biparietal nar... |
ORPHA:2754 |
Macrocephaly/Autism Syndrome |
|
Biparietal narrowing, Midface retrusion, Large for gestational age, Frontal bossing, Obesity, Pos... |
OMIM:605309 |
Martsolf Syndrome 2 |
|
Camptodactyly of finger, Decreased body weight, Lateral ventricle dilatation, Short stature, Camp... |
OMIM:619420 |
Mucolipidosis Type Iv |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Biparietal narrowing, Microcephaly |
ORPHA:578 |
Adenosine Monophosphate Deaminase Deficiency |
|
Limb muscle weakness, Exercise-induced muscle fatigue |
ORPHA:45 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Dysphagia, Myopathy, Increased muscle fatiguability |
OMIM:613077 |
Pontocerebellar Hypoplasia, Type 12 |
|
Hypoplasia of the brainstem, Lateral ventricle dilatation, Cerebellar hypoplasia, Primary microce... |
OMIM:618266 |
Joubert Syndrome With Hepatic Defect |
|
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Bi... |
ORPHA:1454 |
Pure Mitochondrial Myopathy |
|
Rhabdomyolysis, Exercise-induced muscle fatigue, Pelvic girdle muscle weakness, Quadriceps muscle... |
ORPHA:254854 |
Alg13-Cdg |
|
Cognitive impairment, Abnormal lateral ventricle morphology, Decreased body weight |
ORPHA:324422 |
Toluene Embryopathy |
|
Biparietal narrowing, Microcephaly, Short stature |
ORPHA:1920 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Short stature, Biparietal narrowing, Umbilical hernia |
ORPHA:1770 |
Ravine Syndrome |
|
Decreased body weight, Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainste... |
ORPHA:99852 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Leukoencephalopathy, Lateral ventricle dilatation, Premature ovarian insufficiency, Periventricul... |
OMIM:615889 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Biparietal narrowing, Ventriculomegaly, Short stature |
ORPHA:2031 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Rhabdomyolysis, Exercise-induced muscle fatigue, Macrocephaly, Increased intramyocellular lipid d... |
ORPHA:26791 |
3Q29 Microduplication Syndrome |
|
Macrocephaly, Biparietal narrowing, Camptodactyly of toe, Microcephaly, Obesity, Craniosynostosis |
ORPHA:251038 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Pontocerebellar Hypoplasia Type 2 |
|
Hypoplasia of the brainstem, Hypoplasia of the ventral pons, Ventriculomegaly, Abnormal cortical ... |
ORPHA:2524 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Ventriculomegaly, Biparietal narrowing, Prominent occiput, Microcephaly,... |
ORPHA:99776 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Flexion contracture, Skeletal muscle atrophy, Dysplastic corpu... |
OMIM:613162 |
Lig4 Syndrome |
|
Brachycephaly, Biparietal narrowing, Microcephaly, Growth delay |
ORPHA:99812 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Limb-girdle muscular dystrophy, Cerebral atrophy, Myopathy, Exercise-induced muscle fatigue |
ORPHA:369847 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Growth delay, Overfriendliness, Primary microcephaly |
OMIM:618010 |
Lathosterolosis |
|
Cerebellar cortical atrophy, Chiari malformation, Biparietal narrowing, Cerebral calcification, F... |
ORPHA:46059 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Hypoplasia of the brainstem, Plagiocephaly, Cerebellar d... |
OMIM:617751 |
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 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Exercise-induced mus... |
ORPHA:681 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Lower limb muscle weakness, Secondary microcephaly, Hypergonadotropic hypogonadism, Dysplastic co... |
OMIM:619737 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Cardiofaciocutaneous Syndrome |
|
Cerebral cortical atrophy, Short stature, Macrocephaly, Biparietal narrowing, Hydrocephalus, Fron... |
ORPHA:1340 |
Stormorken Syndrome |
|
Myopathy, Short stature, Increased muscle fatiguability |
OMIM:185070 |
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 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Perisylvian polymicrogyria, Ventriculomega... |
ORPHA:171680 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
ORPHA:243343 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Failure to thrive, Increased muscle fatiguability |
OMIM:618250 |
Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
OMIM:605850 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
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 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flexion contracture, Basal ganglia gliosis, Ventriculomegaly, Lateral ventricle dilatation, Small... |
ORPHA:79243 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Leukoencephalopathy, Lateral ventricle dilatation, Frontal lobe dementia, Dementia, Basal ganglia... |
OMIM:221770 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar hypoplasia, Abnormal lateral ventricle morphology, Growth delay, Hypoplasia of the cor... |
ORPHA:488635 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Decreased body weight, Short stature, Lissencephaly, Microcephaly, Cerebella... |
OMIM:614833 |
Erythrocyte Lactate Transporter Defect |
|
Exercise-induced muscle fatigue |
OMIM:245340 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Abnormal brainstem MRI signal intensity, Restlessness, Abnormal basal ganglia morphology, Small b... |
ORPHA:263410 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Rhabdomyolysis, Exercise-induced muscle fatigue |
ORPHA:2364 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Knee flexion contracture, Lateral ventricle dilatation, Primary microcephaly, Craniosynostosis, S... |
ORPHA:284417 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Biparietal narrowing |
ORPHA:228396 |
20Q11.2 Microdeletion Syndrome |
|
Camptodactyly, Midface retrusion, Frontal bossing, Brainstem dysplasia, Intrauterine growth retar... |
ORPHA:444051 |
Smith-Lemli-Opitz Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly... |
ORPHA:818 |
47,Xyy Syndrome |
|
Hyperactivity, Cerebellar dysplasia, Abnormal brainstem morphology, Dysgenesis of the cerebellar ... |
ORPHA:8 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Mucolipidosis Iv |
|
Cerebral dysmyelination, Progressive neurologic deterioration, Microcephaly, Cerebellar atrophy, ... |
OMIM:252650 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
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 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis, Exercise-induced muscle fatigue |
ORPHA:713 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Hypoplasia of the brainstem, Flexion contracture, Simplified gyral pattern, Failure to thrive, Mi... |
OMIM:620001 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Abnormal brainstem morphology, Mental deterioration |
ORPHA:2382 |
Microphthalmia-Brain Atrophy Syndrome |
|
Corpus callosum atrophy, Cerebellar vermis atrophy, Lateral ventricle dilatation, Diffuse cerebra... |
ORPHA:77299 |
Congenital Hydrocephalus |
|
Small cerebral cortex, Ventriculomegaly, Abnormal cortical gyration, Hydrocephalus, Macrocephaly,... |
ORPHA:2185 |
Band Heterotopia |
|
Plagiocephaly, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Macrocephaly, Subco... |
OMIM:600348 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Craniosynostosis 6 |
|
Brachycephaly, Parietal foramina, Plagiocephaly, Turricephaly, Lateral ventricle dilatation, Righ... |
OMIM:616602 |
Corticosteroid-Binding Globulin Deficiency |
|
Increased muscle fatiguability |
OMIM:611489 |
Distal 22Q11.2 Microduplication Syndrome |
|
Camptodactyly of finger, Macrocephaly, Biparietal narrowing, Camptodactyly of toe, Hydrocephalus,... |
ORPHA:261337 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Abnormal brainstem morphology, Hydrocephalus, Frontal bossing, Abnormal cerebra... |
ORPHA:163961 |
Septopreoptic Holoprosencephaly |
|
Perisylvian polymicrogyria, Abnormal septum pellucidum morphology, Hypoplasia of the pons, Impuls... |
ORPHA:280195 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cognitive impairment, Elongated superior cerebell... |
ORPHA:370022 |
Pontocerebellar Hypoplasia Type 10 |
|
Simplified gyral pattern, Abnormal cerebral cortex morphology, Growth delay, Abnormal brainstem m... |
ORPHA:411493 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Brachycephaly, Lateral ventricle dilatation, Dandy-Walker malformation, Hypoplasia of the pons, M... |
OMIM:618736 |
Spinocerebellar Ataxia Type 1 |
|
Loss of Purkinje cells in the cerebellar vermis, Cognitive impairment, Abnormal brainstem morphol... |
ORPHA:98755 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... |
ORPHA:529970 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Lateral ventricle dilatation, Short stature, Craniosynostosis, Atrophy/D... |
ORPHA:356961 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 25 |
|
Early spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Non-obstructive azoo... |
OMIM:617960 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation, Thin corpus callosum, Hypomimic face, Secondary microcephaly, Impul... |
OMIM:617854 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Inguinal hernia, Male infertility |
OMIM:261550 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
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 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
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 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
Spermatogenic Failure 63 |
|
Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, Biparietal narrowing, Cognitive impairment |
ORPHA:935 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
C Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the corpus callosum, ... |
ORPHA:1308 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebellar hypoplasia, Perive... |
OMIM:616900 |
Adult Krabbe Disease |
|
Lower limb muscle weakness, Erectile dysfunction, Morphological abnormality of the pyramidal trac... |
ORPHA:206448 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Short stature, Hypoplastic anterio... |
OMIM:618325 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Primary microcephaly, Abnormal cerebellar vermis morphology, Cerebellar... |
ORPHA:357058 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Azoospermia |
OMIM:618110 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Flexion contracture, Cerebral cortical atrophy, Multiple joint contractures, Ventriculomegaly, La... |
OMIM:618291 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Hypoplasia of the brainstem, Colpocephaly, Dysplastic corpus callosum, Agenesis of corpus callosu... |
ORPHA:250972 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Corpus callosum atrophy, Congenital foot contractures, Lateral ventricle dilatation, Limb hyperto... |
ORPHA:565624 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Abnormal dentate nucleus morphology, Lateral ventricle dilatation, Thin corpus callosum, Partial ... |
OMIM:619517 |
Dopamine Beta-Hydroxylase Deficiency |
|
Retrograde ejaculation, Exercise-induced muscle fatigue |
ORPHA:230 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Plagiocephaly, Lateral ventricle dilatation, Primary microcephaly, Lissencephaly, Type II lissenc... |
ORPHA:300570 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Plagiocephaly, Cerebellar hypoplasia, Midface retrusion, Polymicrogyria, Microcephaly, Colpocephaly |
OMIM:618731 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Thyrotoxic Periodic Paralysis |
|
Rhabdomyolysis, Exercise-induced muscle fatigue, Weight loss, Lower limb muscle weakness, Abnorma... |
ORPHA:79102 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Limb hypertonia, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Lower limb amyotrophy,... |
ORPHA:401815 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spinocerebellar Ataxia Type 32 |
|
Cognitive impairment, Azoospermia, Testicular atrophy, Male infertility, Cerebellar atrophy |
ORPHA:276183 |
Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Contractures of the large joints, Lateral ventricle dilatation, Cerebel... |
ORPHA:3078 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Distal arthrogryposis, Plagiocephaly, Ventriculomegaly, Short stature, Thin corpus callosum, Peri... |
OMIM:619833 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Flexion contracture, Cognitive impairment, Abnormal caudate nucleus morphology, Lateral ventricle... |
ORPHA:2148 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Partial Atrioventricular Septal Defect |
|
Exercise-induced muscle fatigue |
ORPHA:1330 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Periventricular cysts, Cerebral cortical atrophy, Lateral ventricle dilatation, Simplified gyral ... |
OMIM:617668 |
Pontocerebellar Hypoplasia, Type 13 |
|
Lateral ventricle dilatation, Failure to thrive, Hypoplasia of the pons, Microcephaly, Hypoplasia... |
OMIM:618606 |
Alg2-Cdg |
|
Lateral ventricle dilatation, Hyperintensity of cerebral white matter on MRI, Abnormal basal gang... |
ORPHA:79326 |
Alkuraya-Kucinskas Syndrome |
|
Kinked brainstem, Hypoplasia of the brainstem, Plagiocephaly, Ventriculomegaly, Cerebellar dyspla... |
OMIM:617822 |
Isochromosomy Yq |
|
Male infertility, Azoospermia |
ORPHA:98798 |
Malan Overgrowth Syndrome |
|
Hypoplasia of the brainstem, Plagiocephaly, Ventriculomegaly, Lateral ventricle dilatation, Scaph... |
ORPHA:420179 |
Adams-Oliver Syndrome 2 |
|
Retrocerebellar cyst, Lateral ventricle dilatation, Limb hypertonia, Cerebellar hypoplasia, Hydro... |
OMIM:614219 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Cerebral cortical atrophy, Abnormal substantia nigra morphology, Lateral ventricle dilatation, Lo... |
ORPHA:2822 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Ventriculomegaly, Abnormal brainstem morphology, Cerebellar cyst, Agyria, Polymicrogyria, Hypopla... |
ORPHA:370997 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Hypoplasia of the corpus callosum, Increased variability in muscle fiber diameter, Myopathy, Late... |
OMIM:616816 |
Bilateral Generalized Polymicrogyria |
|
Short stature, Lateral ventricle dilatation, Growth delay, Microcephaly, Diffuse white matter abn... |
ORPHA:208447 |
Gangliocytoma |
|
Impotence, Abnormal brainstem morphology, Abnormal cerebellum morphology, Decreased female libido... |
ORPHA:251937 |
Classic Galactosemia |
|
Decreased fertility in females, Secondary amenorrhea, Premature ovarian insufficiency, Oligomenor... |
ORPHA:79239 |
Joubert Syndrome 2 |
|
Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Molar tooth sign on MRI, Elongated su... |
OMIM:608091 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Rhizomelic arm shortening, Dilated third ventricle, Rhizomelic leg shortening, Molar tooth sign o... |
ORPHA:397715 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Flexion contracture, Camptodactyly, Failure to thrive, Microcephaly, Dysplastic corpus callosum |
OMIM:604273 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Cognitive impairment, Lower limb muscle weakness, Abnormal brainstem MRI signal intensity, Facial... |
ORPHA:254930 |
Bilateral Polymicrogyria |
|
Cognitive impairment, Ventriculomegaly, Perisylvian polymicrogyria, Abnormality of masticatory mu... |
ORPHA:268940 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Pachygyria, Colpocephaly |
OMIM:614870 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Short stature, Plagiocephaly, Lateral ventricle dilatation, Frontal bossing |
OMIM:618330 |
Leigh Syndrome |
|
Encephalomalacia, Abnormal dentate nucleus morphology, Neuronal loss in basal ganglia, Focal T2 h... |
ORPHA:506 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Periventricular cysts, Lateral ventricle dilatation, Hyperintensity of c... |
ORPHA:544488 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Multifocal cerebral wh... |
ORPHA:488627 |
Leigh Syndrome With Cardiomyopathy |
|
Basal ganglia gliosis, Neuronal loss in basal ganglia, Ventriculomegaly, Abnormal brainstem morph... |
ORPHA:70474 |
Even-Plus Syndrome |
|
Brachycephaly, Midface retrusion, Severe short stature, Dysplastic corpus callosum, Agenesis of c... |
OMIM:616854 |
Unilateral Hemispheric Polymicrogyria |
|
Cerebral hypoplasia, Thick cerebral cortex, Cortical dysplasia, Lateral ventricle dilatation |
ORPHA:101071 |
Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Lateral ventricle dilatation, Th... |
OMIM:608629 |
Fanconi Anemia, Complementation Group I |
|
Decreased body weight, Chiari malformation, Short stature, Microcephaly, Absent septum pellucidum... |
OMIM:609053 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Hypoplasia of the brainstem, Infancy onset short-trunk short stature, Ven... |
ORPHA:444072 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Hypoplasia of the pons, Midline brainstem cleft, Agenesis of corpus callosum, Abno... |
OMIM:617542 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Abnormal periventricular white matter morphology, Ventriculomegaly, Lat... |
OMIM:613443 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Ventriculomegaly, Short stature, Simplified gyral pattern, Failure to thrive, Microcephaly, Pachy... |
OMIM:619179 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dilated third ventricle, Flexion contracture, Ventriculomegaly, Lateral ventricle dilatation, Cer... |
OMIM:613154 |
Cog5-Cdg |
|
Camptodactyly of finger, Joint contracture of the hand, Lateral ventricle dilatation, Short statu... |
ORPHA:263487 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum, Camptodactyly, Joint contracture of the hand |
OMIM:601016 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Rhizomelia, Lateral ventricle dilatation, Short stature, Camptodactyly, Midface retrusion, Left v... |
OMIM:611209 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Leukoencephalopathy, Dilated fourth ventricle, Abnormal periventricular white matter morphology, ... |
ORPHA:572798 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Microcephaly, Agenesis of corpus callosum, Colpocephaly |
OMIM:619955 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly, Lateral ventricle dilatation, Short corpus callosum |
OMIM:619972 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lewy bodies, Frontotemporal dementia, Cerebral cortical atrophy, Lateral ventricle dilatation, Ag... |
OMIM:607485 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Abnormal cerebellum morphology, Lateral ventricle dilatation, Macrocephaly, Morphological abnorma... |
OMIM:256850 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Abnormal brainstem MRI signal intensity, Dementia |
ORPHA:320365 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Cerebral edema, Flexion contracture, Cognitive impairment, Decreased body weight, Muscle fiber at... |
ORPHA:258 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Kinked brainstem, Hypoplasia of the brainstem, Cerebellar dysplasia, Ventriculomegaly, Cerebellar... |
OMIM:236670 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Growth delay, Thin corpus callosum, Microcephaly, Lateral ventricle dilatation |
OMIM:615716 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Dysplastic corpus callosum, Intrauterine growth retardation |
OMIM:620135 |
Holoprosencephaly 5 |
|
Hydrocephalus, Microcephaly, Lateral ventricle dilatation, Trigonocephaly |
OMIM:609637 |
X-Linked Intellectual Disability, Wilson Type |
|
Brachycephaly, Lateral ventricle dilatation, Inguinal hernia, Growth delay, Microcephaly |
ORPHA:85290 |
Arnold-Chiari Malformation Type Ii |
|
Aqueductal stenosis, Ventriculomegaly, Hand muscle atrophy, Agenesis of corpus callosum, Hydrocep... |
ORPHA:1136 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Generalized amyotrophy, Short stature, Failure to thrive, Secondary microcephaly, Dysplastic corp... |
OMIM:619423 |
Joubert Syndrome 1 |
|
Hyperactivity, Hypoplasia of the brainstem, Plagiocephaly, Molar tooth sign on MRI, Elongated sup... |
OMIM:213300 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Hypoplasia of the corpus callosum, Microcephaly, Lateral ventricle dilatation |
OMIM:618890 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Abnormal periventricular white matter morphology, Hyperactivity, Facial myokymia, Male hypogonadi... |
ORPHA:139396 |
Distal Monosomy 10Q |
|
Brachycephaly, Lateral ventricle dilatation, Short stature, Cerebellar hypoplasia, Inferior cereb... |
ORPHA:96148 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Generalized amyotrophy, Abnormal brainstem morphology |
ORPHA:79279 |
Relapsing Polychondritis |
|
Biparietal narrowing |
ORPHA:728 |
Halperin-Birk Syndrome |
|
Flexion contracture, Ventriculomegaly, Pseudobulbar paralysis, Agenesis of corpus callosum, Ingui... |
OMIM:618651 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Male infertility, Attention deficit hyperactivity disorder |
ORPHA:3000 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Lateral ventricle dilatation, Macrocephaly, Multifocal cerebral white matter abnormalities, Front... |
OMIM:600721 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... |
OMIM:618433 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Brachycephaly, Dilated third ventricle, Plagiocephaly, Lateral ventricle dilatation, Limb hyperto... |
OMIM:617296 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Mild microcephaly, Ventriculomegaly, Premature ovarian insufficiency, Camptodactyly, Endometriosi... |
ORPHA:363444 |
Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Focal polymicrogyria, Partial agenesis of the corpus callosum, Attention deficit hyperactivity di... |
OMIM:619103 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Simplified gyral pattern, Macrocephaly, Communicating hydrocephalus, Lissenceph... |
OMIM:615219 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation, Primary microcephaly, Small for gestational age, Short stature, Mic... |
OMIM:619847 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cognitive impairment, Abnormal brainstem MRI signal intensity, Left ventricular hypertrophy, Fail... |
ORPHA:444013 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Cerebral cortical atrophy, Impotence, Abnormal brainstem morphology, Dementia, Diffuse cerebellar... |
ORPHA:93256 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Polymicrogyria |
OMIM:300982 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Short stature, Agenesis of corpus callosum, Secondary microcephaly, Partial agenesis of the corpu... |
OMIM:620113 |
Central Neurocytoma |
|
Cerebral calcification, Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Knee flexion contracture, Enamel hypoplasia, Cerebral cortical atrophy, Ventriculomegaly, Short s... |
OMIM:151050 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Brachycephaly, Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Simpli... |
OMIM:619244 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Plagiocephaly, Lateral ventricle dilatation, Macrocephaly, Midface retrusion, Dolichocephaly, Fro... |
ORPHA:457279 |
Spermatogenic Failure 2 |
|
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia |
OMIM:108420 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, Thin corpus callosum, Frontal bossing, Microcephaly, Hypoplasia of ... |
OMIM:614105 |
Duplication Of The Pituitary Gland |
|
Abnormality of masseter muscle, Decreased body weight, Brachyturricephaly, Short stature, Midface... |
ORPHA:314621 |
Kohlschutter-Tonz Syndrome-Like |
|
Brachycephaly, Enamel hypoplasia, Decreased body weight, Ventriculomegaly, Lateral ventricle dila... |
OMIM:619229 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:616950 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Colpocephaly, Chiari malformation, Macrocephaly, Polymicrogyria, Acrania, Secondary microcephaly,... |
OMIM:618820 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation, Inguinal hernia, Impulsivity, Small thenar eminence, Joint contract... |
OMIM:618914 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Cerebral cortical hemiatrophy, Lateral ventricle dilatation |
ORPHA:306669 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Leukoencephalopathy, Abnormal brainstem MRI signal intensity, Midface retrusion, Morphological ab... |
ORPHA:83629 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Cerebral cortical atrophy, Ventriculomegaly, Abnormal brainstem morphology, Birth length less tha... |
ORPHA:464311 |
Khan-Khan-Katsanis Syndrome |
|
Ventriculomegaly, Short stature, Corneal scarring, Cerebellar vermis hypoplasia, Frontal bossing,... |
OMIM:618460 |
Ring Chromosome Y Syndrome |
|
Abnormal spermatogenesis, Short stature, Azoospermia, Male hypogonadism, Female infertility, Male... |
ORPHA:261529 |
Glutamine Deficiency, Congenital |
|
Flexion contracture, Lateral ventricle dilatation, Camptodactyly, Subependymal cysts, Hypoplasia ... |
OMIM:610015 |
Cerebrofacioarticular Syndrome |
|
Ventriculomegaly, Short stature, Camptodactyly, Microcephaly, Hypoplasia of the corpus callosum, ... |
ORPHA:314679 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Japanese Encephalitis |
|
Cerebral edema, Abnormal substantia nigra morphology, Cognitive impairment, Abnormal cerebral mor... |
ORPHA:79139 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Left ventricular hypertrophy, Hypoplasia of the corpus callosum, Agenesis of co... |
OMIM:618619 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, Lateral ventricle dilatation, Cerebellar hypoplasia, Elbow flexion contr... |
ORPHA:1692 |
Oculoskeletodental Syndrome |
|
Enamel hypoplasia, Dysplastic corpus callosum, Focal white matter lesions, Short stature |
ORPHA:557003 |
Joubert Syndrome 7 |
|
Abnormal corpus callosum morphology, Brainstem dysplasia, Hypoplasia of the brainstem, Molar toot... |
OMIM:611560 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Lateral ventricle dilatation, Short stature, Macrocephaly, Hydrocephalus... |
OMIM:619575 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Lateral ventricle dilatation, Hydrocephalus, Dolichocephaly, Frontal bossing, Growth delay, Probs... |
OMIM:612863 |
Semilobar Holoprosencephaly |
|
Flexion contracture, Abnormal brainstem morphology, Short stature, Proboscis, Macrocephaly, Hydro... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Flexion contracture, Abnormal brainstem morphology, Short stature, Proboscis, Macrocephaly, Hydro... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Flexion contracture, Abnormal brainstem morphology, Short stature, Proboscis, Macrocephaly, Hydro... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Flexion contracture, Abnormal brainstem morphology, Short stature, Proboscis, Macrocephaly, Hydro... |
ORPHA:93924 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hypoplasia of the frontal lobes, Flexion contracture, Lateral ventricle dilatation, Elbow flexion... |
OMIM:210710 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Knee flexion contracture, Flexion contracture, Hip contracture, Cerebral cortical atrophy, Increa... |
OMIM:300868 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyperactivity, Reduced cerebral white matter volume, Lateral ventricle dilatation, Thin corpus ca... |
OMIM:620075 |
Weaver Syndrome |
|
Diastasis recti, Ventriculomegaly, Joint contracture of the hand, Lateral ventricle dilatation, C... |
OMIM:277590 |
Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Cerebral calcification, Mi... |
OMIM:617397 |
Spermatogenic Failure 77 |
|
Multiflagellar spermatozoa, Oligospermia, Male infertility, Azoospermia |
OMIM:620103 |
Zttk Syndrome |
|
Flexion contracture, Ventriculomegaly, Short stature, Cerebellar hypoplasia, Periventricular leuk... |
OMIM:617140 |
Bainbridge-Ropers Syndrome |
|
Scaphocephaly, Lateral ventricle dilatation, Inferior cerebellar vermis hypoplasia, Failure to th... |
OMIM:615485 |
Aicardi-Goutieres Syndrome 9 |
|
Weight loss, Lateral ventricle dilatation, Left ventricular hypertrophy, Cerebral calcification, ... |
OMIM:619487 |
Aicardi Syndrome |
|
Dilated third ventricle, Chiari malformation, Lateral ventricle dilatation, Cavum septum pellucid... |
OMIM:304050 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Ventriculomegaly, Short stature, Frontal bossing, Microcephaly, Hypoplasia of the corpus callosum... |
OMIM:617260 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Short stature, Agenesis of corpus callosum, Hydrocephalus, Congenital diaphragmatic hernia, Micro... |
OMIM:309801 |
Acute Disseminated Encephalomyelitis |
|
Abnormal periventricular white matter morphology, Cerebral edema, Abnormal cerebellum morphology,... |
ORPHA:83597 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar vermis atrophy, Cerebellar hypoplasia, Small for gestational age, Macrogyria, Camptoda... |
OMIM:614866 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Spondyloenchondrodysplasia |
|
Abnormal periventricular white matter morphology, Ventriculomegaly, Short stature, Abnormal later... |
ORPHA:1855 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Increased head circumference, Cerebellar hypoplasia, Thick corpus callosum, Macrocephaly, Relativ... |
OMIM:300967 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Flexion contracture, Molar tooth sign on MRI, Ventriculomegaly, Lateral ventricle dilatation, Dys... |
OMIM:619479 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Small for gestational age, Microcephaly, Lateral ventricle dilatation |
OMIM:619278 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Brachycephaly, Short stature, Lateral ventricle dilatation, Lower limb hypertonia |
OMIM:619995 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Leukoencephalopathy, Failure to thrive, Hypoplasia of the corpus callosum, Dysplastic corpus call... |
OMIM:614924 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Cerebral edema, Abnormal putamen morphology, Abnormal br... |
ORPHA:88619 |
Ethylmalonic Encephalopathy |
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Abnormal brainstem MRI signal intensity, Failure to thrive, Abnormal basal ganglia MRI signal int... |
ORPHA:51188 |
Ciliary Dyskinesia, Primary, 45 |
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Male infertility |
OMIM:618801 |
Glutaric Acidemia I |
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Failure to thrive, Macrocephaly, Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
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Aplasia/Hypoplasia of the cerebellum, Short stature, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:2720 |
Achondroplasia |
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Rhizomelia, Hydrocephalus, Macrocephaly, Midface retrusion, Brain stem compression, Frontal bossi... |
OMIM:100800 |
Spermatogenic Failure 66 |
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Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 9 |
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Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
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Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
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Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
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Globozoospermia, Male infertility |
OMIM:619826 |
6Q Terminal Deletion Syndrome |
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Plagiocephaly, Cerebellar hypoplasia, Macrocephaly, Dolichocephaly, Polymicrogyria, Abnormal cere... |
ORPHA:75857 |
Bloom Syndrome |
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Decreased head circumference, Small for gestational age, Premature ovarian insufficiency, Azoospe... |
ORPHA:125 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Colpocephaly, Enlarged cerebellum, Macrocephaly, Hypoplasia of the corpus callosum, Cerebral whit... |
ORPHA:477993 |
Ciliary Dyskinesia, Primary, 34 |
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Male infertility, Immotile sperm |
OMIM:617091 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
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Plagiocephaly, Short stature, Cerebellar vermis hypoplasia, Failure to thrive, Microcephaly, Colp... |
OMIM:620083 |
Meningioma |
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Cognitive impairment, Impotence, Lower limb muscle weakness, Abnormal cerebellum morphology, Faci... |
ORPHA:2495 |
Gabriele-De Vries Syndrome |
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Distal arthrogryposis, Lateral ventricle dilatation, Dolichocephaly, Facial hypotonia, Attention ... |
OMIM:617557 |
Amoebiasis Due To Free-Living Amoebae |
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Encephalomalacia, Cerebral edema, Abnormal cerebellum morphology, Abnormal brainstem MRI signal i... |
ORPHA:68 |
Spermatogenic Failure 28 |
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Male infertility, Non-obstructive azoospermia |
OMIM:618086 |
Kapur-Toriello Syndrome |
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Failure to thrive, Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Dilated third ventricle, Lateral ventricle dilatation, Inguinal hernia, Contracture of the proxim... |
ORPHA:464738 |
Spermatogenic Failure 14 |
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Male infertility, Azoospermia, Late spermatogenesis maturation arrest |
OMIM:615842 |
Cystinosis, Nephropathic |
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Weight loss, Short stature, Cerebral calcification, Frontal bossing, Male hypogonadism, Delayed p... |
OMIM:219800 |
Familial Cerebral Saccular Aneurysm |
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Encephalomalacia, Abnormal brainstem morphology |
ORPHA:231160 |
X-Linked Parkinsonism-Spasticity Syndrome |
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Dilated third ventricle, Diffuse cerebral atrophy, Lateral ventricle dilatation |
ORPHA:363654 |
Keppen-Lubinsky Syndrome |
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Flexion contracture, Lateral ventricle dilatation, Failure to thrive, Generalized lipodystrophy, ... |
OMIM:614098 |
Paganini-Miozzo Syndrome |
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Lateral ventricle dilatation |
OMIM:301025 |
Prader-Willi Syndrome Due To Translocation |
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Cerebral cortical atrophy, Lateral ventricle dilatation, Short stature, Attention deficit hyperac... |
ORPHA:177907 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Plagiocephaly, Cerebellar hypoplasia, Pseudobulbar paralysis, Relative macrocephaly, Left ventric... |
ORPHA:466791 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Dysplastic corpus callosum, Cerebellar hypoplasia |
OMIM:618810 |
Neurocardiofaciodigital Syndrome |
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Dilated fourth ventricle, Cavum septum pellucidum, Lateral ventricle dilatation, Short stature, S... |
OMIM:619869 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Social and occupational deterioration, Chiari malformation, Short stature, Keloids... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Social and occupational deterioration, Chiari malformation, Short stature, Keloids... |
ORPHA:353277 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Sagittal craniosynostosis, Cerebellar hemisphere hypoplasia, Ventriculomegaly, Lateral ventricle ... |
ORPHA:500150 |
Androgen Insensitivity Syndrome |
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Inguinal hernia, Delayed puberty, Male infertility |
ORPHA:754 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
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Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Intrinsic hand muscle atrophy, Mic... |
OMIM:618569 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Male infertility |
OMIM:618948 |
Spermatogenic Failure, X-Linked, 4 |
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Male infertility, Azoospermia |
OMIM:301077 |
Primary Ciliary Dyskinesia |
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Abnormal sperm motility, Ventriculomegaly, Hydrocephalus, Female infertility, Male infertility |
ORPHA:244 |
Fanconi Anemia, Complementation Group A |
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Short stature, Small for gestational age, Male infertility, Hypergonadotropic hypogonadism, Micro... |
OMIM:227650 |
Smith-Lemli-Opitz Syndrome |
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Hypoplasia of the frontal lobes, Hyperactivity, Short stature, Hydrocephalus, Diffuse cerebral at... |
OMIM:270400 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
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Lateral ventricle dilatation, Primary microcephaly, Periventricular leukomalacia, Choroid plexus ... |
ORPHA:293725 |
Full Nf2-Related Schwannomatosis |
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Wrist drop, Abnormal cerebellum morphology, Hydrocephalus, Brain stem compression, Foot dorsiflex... |
ORPHA:637 |
Ventriculomegaly With Defects Of The Radius And Kidney |
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Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Helsmoortel-Van Der Aa Syndrome |
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Hyperactivity, Ventriculomegaly, Lateral ventricle dilatation, Short stature, Midface retrusion, ... |
OMIM:615873 |
Osteogenesis Imperfecta |
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Brachycephaly, Dentinogenesis imperfecta, Flexion contracture, Noncommunicating hydrocephalus, Ve... |
ORPHA:666 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Hypogonadism, Weight loss, Oligospermia, Male infertility, Myopathy |
ORPHA:85450 |
Noonan Syndrome 14 |
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Scapular winging, Short stature, Lateral ventricle dilatation |
OMIM:619745 |
Tick-Borne Encephalitis |
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Cognitive impairment, Abnormal brainstem MRI signal intensity, Skeletal muscle atrophy, Dysphagia... |
ORPHA:297 |
Arima Syndrome |
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Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplas... |
OMIM:243910 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Decreased fertility, Irregular menstruation, Male hypogonadism, Failure to thrive, Delayed pubert... |
ORPHA:90793 |
Witteveen-Kolk Syndrome |
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Hyperactivity, Bilateral polymicrogyria, Ventriculomegaly, Short stature, Small for gestational a... |
OMIM:613406 |
Aromatase Deficiency |
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Eunuchoid habitus, Female infertility, Male infertility, Hypergonadotropic hypogonadism, Growth d... |
ORPHA:91 |
White-Kernohan Syndrome |
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Midface retrusion, Obesity, Attention deficit hyperactivity disorder, Dysplastic corpus callosum |
OMIM:619426 |
Choreoacanthocytosis |
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Peroneal muscle atrophy, Hyperactivity, Cerebral cortical atrophy, Muscle fiber atrophy, Weight l... |
ORPHA:2388 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Failure to thrive, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:300952 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Camptodactyly of finger, Brachycephaly, Leukoencephalopathy, Cerebral cortical atrophy, Lateral v... |
OMIM:607872 |
Complete Androgen Insensitivity Syndrome |
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Delayed puberty, Male infertility, Primary amenorrhea |
ORPHA:99429 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Male infertility |
ORPHA:2239 |
Osteopetrosis, Autosomal Recessive 7 |
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Hydrocephalus, Growth delay, Increased head circumference, Lateral ventricle dilatation |
OMIM:612301 |
Arnold-Chiari Malformation Type I |
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Abnormality of the musculature of the lower limbs, Chiari type I malformation, Brain stem compres... |
ORPHA:268882 |
Ciliary Dyskinesia, Primary, 1 |
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Male infertility, Communicating hydrocephalus |
OMIM:244400 |
Congenital Disorder Of Glycosylation, Type Iim |
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Enamel hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Microcephaly, Cerebral at... |
OMIM:300896 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Flexion contracture, Lateral ventricle dilatation, Primary microcephaly, Camptodactyly, Abnormal ... |
ORPHA:261537 |
Congenital Bilateral Absence Of Vas Deferens |
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Oligospermia, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Scalp-Ear-Nipple Syndrome |
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Multiple lipomas, Short stature, Lateral ventricle dilatation, Frontal bossing, Calvarial skull d... |
OMIM:181270 |
Holoprosencephaly 13, X-Linked |
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Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, Colpocephaly |
OMIM:301043 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Brachycephaly, Pachygyria, Lateral ventricle dilatation, Cerebellar vermis hypoplasia |
OMIM:263520 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Flexion contracture, Lateral ventricle dilatation, Primary microcephaly, Camptodactyly, Abnormal ... |
ORPHA:261552 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Genitopatellar Syndrome |
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Knee flexion contracture, Hip contracture, Thin corpus callosum, Microcephaly, Pachygyria, Dyspha... |
OMIM:606170 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Short stature, Macrocephaly, Delayed puberty, Abnormal midbrain morphology, Polyphagia, Obesity, ... |
ORPHA:293987 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Short stature, Azoospermia, Delayed puberty, Male infertility, Muscle hypertrophy of the lower ex... |
ORPHA:1772 |
Partial Androgen Insensitivity Syndrome |
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Male infertility, Azoospermia, Male sexual dysfunction, Primary amenorrhea |
ORPHA:90797 |
Paget Disease Of Bone 2, Early-Onset |
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Brain stem compression |
OMIM:602080 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
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Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
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Male infertility, Azoospermia |
OMIM:277180 |
46,Xy Partial Gonadal Dysgenesis |
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Decreased fertility in females, Azoospermia, Delayed puberty, Male infertility, Hypergonadotropic... |
ORPHA:251510 |
Kabuki Syndrome 1 |
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Short stature, Lateral ventricle dilatation, Hydrocephalus, Microcephaly, Growth delay, Postnatal... |
OMIM:147920 |
Noonan Syndrome 1 |
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Short stature, Hypogonadism, Male infertility, Failure to thrive in infancy, Postnatal growth ret... |
OMIM:163950 |
Listeriosis |
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Abnormal brainstem MRI signal intensity, Rhabdomyolysis |
ORPHA:533 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Aqueductal stenosis, Lateral ventricle dilatation, Short stature, Frontotemporal cerebral atrophy... |
OMIM:619534 |
Williams Syndrome |
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Cerebral cortical atrophy, Functional abnormality of male internal genitalia, Short stature, Chia... |
ORPHA:904 |