| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys... |
ORPHA:300573 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Decr... |
ORPHA:500166 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
| Xp21 Deletion Syndrome |
|
Increased muscle fatiguability, Decreased muscle mass, Hypogonadotropic hypogonadism, Confusion, ... |
ORPHA:261476 |
| Peho Syndrome |
|
Cerebellar atrophy, Midface retrusion, Microcephaly, Hydrocephalus, Flexion contracture, Porencep... |
ORPHA:2836 |
| Craniosynostosis 1 |
|
Frontal bossing, Turricephaly, Craniosynostosis, Sagittal craniosynostosis, Oxycephaly, Scaphocep... |
OMIM:123100 |
| Macrocephaly, Benign Familial |
|
Frontal bossing, Macrocephaly, Biparietal narrowing, Dolichocephaly, Ventriculomegaly |
OMIM:153470 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Inguinal hernia, Short stature, Camptodactyly of finger, Cachexia, Aggressive beha... |
ORPHA:85293 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Periventricular cyst... |
ORPHA:255182 |
| Gómez-López-Hernández Syndrome |
|
Turricephaly, Cerebellar vermis hypoplasia, Short stature, Abnormal cerebellum morphology, Hydroc... |
ORPHA:1532 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Skeletal muscle atrophy, Microcephaly, Hypoplasia of the pons, Dysplastic cor... |
OMIM:618276 |
| Lissencephaly 4 |
|
Short stature, Simplified gyral pattern, Growth delay, Colpocephaly, Lissencephaly, Cerebellar hy... |
OMIM:614019 |
| 8P23.1 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Microcephaly, Cryptorchidism, Obesity, Weight los... |
ORPHA:251071 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| 1Q44 Microdeletion Syndrome |
|
Frontal bossing, Short stature, Microcephaly, Hydrocephalus, Growth delay, Biparietal narrowing, ... |
ORPHA:238769 |
| Fetal Alcohol Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Microcephaly, Biparietal narrowing, Cognitive imp... |
ORPHA:1915 |
| Macrocephaly/Autism Syndrome |
|
Short attention span, Frontal bossing, Large for gestational age, Obesity, Hydrocele testis, Bipa... |
OMIM:605309 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... |
OMIM:604213 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Ventriculomegaly, Short stature, Atrophy/Degeneration affecting the brainstem... |
OMIM:617862 |
| Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Biparietal narrowing, Molar tooth sign on MRI, Polym... |
ORPHA:220497 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Short stature, Microcephaly, Biparietal narrowing, Aplasia/Hypoplasia of the cerebellum, Intraute... |
ORPHA:2518 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Cach Syndrome |
|
Cerebellar atrophy, Premature ovarian insufficiency, Progressive neurologic deterioration, Microc... |
ORPHA:135 |
| Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Biparietal narrowing, Molar tooth sign on MRI, Polym... |
ORPHA:220493 |
| Tetraploidy |
|
Intrauterine growth retardation, Chiari malformation, Biparietal narrowing, Microcephaly |
ORPHA:3305 |
| Creatine Phosphokinase, Elevated Serum |
|
Increased muscle fatiguability, Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy... |
OMIM:123320 |
| 16Q24.3 Microdeletion Syndrome |
|
Frontal bossing, Cryptorchidism, Colpocephaly, Biparietal narrowing, Hypoplasia of the corpus cal... |
ORPHA:261250 |
| Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Increased muscle fatiguability, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Spinal muscular atrophy, Microcephaly, Hypoplasia of the pons, Hy... |
OMIM:607596 |
| Joubert Syndrome With Oculorenal Defect |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Biparieta... |
ORPHA:2318 |
| Isotretinoin Syndrome |
|
Biparietal narrowing, Cognitive impairment |
ORPHA:2305 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Frontal bossing, Inguinal hernia, Short stature, Microcephaly, Brachycephaly, Biparietal narrowin... |
ORPHA:1292 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Tubulinopathy-Associated Dysgyria |
|
Ventriculomegaly, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormal br... |
ORPHA:467166 |
| Linear Nevus Sebaceus Syndrome |
|
Frontal bossing, Ventriculomegaly, Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia... |
ORPHA:2612 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Turricephaly, Severe short stature, Abnormal dental enamel morphology, Microcephaly, Moderate pos... |
ORPHA:1005 |
| Orofaciodigital Syndrome Type 6 |
|
Frontal bossing, Cerebellar vermis hypoplasia, Short stature, Bilateral cryptorchidism, Aplasia/H... |
ORPHA:2754 |
| Monosomy 18Q |
|
Short stature, Microcephaly, Bilateral cryptorchidism, Diffuse white matter abnormalities, Hydroc... |
ORPHA:1600 |
| 15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Short stature, Biparietal narrowing, Microcephaly |
ORPHA:261190 |
| Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Increased muscle fatiguability, Weakness of facial musculature, Facial palsy, Dysphagia |
OMIM:616323 |
| Toluene Embryopathy |
|
Cryptorchidism, Short stature, Biparietal narrowing, Microcephaly |
ORPHA:1920 |
| Non-Distal Deletion 10Q |
|
Biparietal narrowing, Cognitive impairment |
ORPHA:1581 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Short stature, Camptodactyly of finger, Abnormal calvaria morphology, Biparietal narrowing, Intra... |
ORPHA:1323 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Intellectual Disability, Buenos-Aires Type |
|
Short stature, Microcephaly, Abnormal calvaria morphology, Biparietal narrowing, Umbilical hernia |
ORPHA:3079 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
| Lig4 Syndrome |
|
Microcephaly, Cryptorchidism, Brachycephaly, Growth delay, Biparietal narrowing |
ORPHA:99812 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Aggressive behavior, Dysplastic corpus callosum, Growth delay, Primary microcephaly, Overfriendli... |
OMIM:618010 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoplasia of the pons, Diffuse white matter abnormalities, Hypoplasia of the brainstem, Agenesis... |
ORPHA:370959 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Restlessness, Confusion, Abnormal brainstem MRI signal intensity, Abnormal basal ganglia morpholo... |
ORPHA:263410 |
| Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Biparieta... |
ORPHA:475 |
| Mucolipidosis Type Iv |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Biparietal narrowing, Microcephaly |
ORPHA:578 |
| Mosaic Trisomy 9 |
|
Ventriculomegaly, Camptodactyly of finger, Microcephaly, Cryptorchidism, Prominent occiput, Bipar... |
ORPHA:99776 |
| Adenosine Monophosphate Deaminase Deficiency |
|
Limb muscle weakness, Exercise-induced muscle fatigue |
ORPHA:45 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Increased muscle fatiguability, Myopathy, Dysphagia |
OMIM:613077 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Martsolf Syndrome 2 |
|
Hypogonadotropic hypogonadism, Camptodactyly of finger, Short stature, Microcephaly, Lateral vent... |
OMIM:619420 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the brainstem, Cerebellar hypoplasi... |
OMIM:618266 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Cognitive impairment, Decreased body weight |
ORPHA:324422 |
| Joubert Syndrome With Hepatic Defect |
|
Inguinal hernia, Cerebellar vermis hypoplasia, Hydrocephalus, Aplasia/Hypoplasia of the corpus ca... |
ORPHA:1454 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Microcephaly, Plagiocephal... |
OMIM:617751 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Short stature, Biparietal narrowing |
ORPHA:1770 |
| Pure Mitochondrial Myopathy |
|
Scapular winging, Quadriceps muscle weakness, Rhabdomyolysis, Proximal amyotrophy, Shoulder girdl... |
ORPHA:254854 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Short stature, Biparietal narrowing, Ventriculomegaly |
ORPHA:2031 |
| 3Q29 Microduplication Syndrome |
|
Craniosynostosis, Microcephaly, Obesity, Biparietal narrowing, Macrocephaly, Camptodactyly of toe |
ORPHA:251038 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Cerebral atrophy, Leukoencepha... |
OMIM:221770 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Premature ovarian insufficiency, Leukoencephalopathy, Lateral ventricle dilat... |
OMIM:615889 |
| Pontocerebellar Hypoplasia Type 2 |
|
Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Oral-pharyngeal dysph... |
ORPHA:2524 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Rhabdomyolysis, Dysphagia, Exercise-induced muscle fat... |
ORPHA:26791 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Flexion contracture, Hypoplasia of the corpus callosum, Skeletal musc... |
OMIM:613162 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Septopreoptic Holoprosencephaly |
|
Short attention span, Abnormal midbrain morphology, Impulsivity, Microcephaly, Hypoplasia of the ... |
ORPHA:280195 |
| Cardiofaciocutaneous Syndrome |
|
Frontal bossing, Failure to thrive in infancy, Short stature, Cryptorchidism, Hydrocephalus, Bipa... |
ORPHA:1340 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Lathosterolosis |
|
Cerebral calcification, Microcephaly, Chiari malformation, Biparietal narrowing, Intrauterine gro... |
ORPHA:46059 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myopathy, Limb-girdle muscular dystrophy, Cerebral atrophy, Exercise-induced muscle fatigue |
ORPHA:369847 |
| 47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Macroorchidism, Impulsivity, Cryptorchidism, Hydrocephalus, Abno... |
ORPHA:8 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
| Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Exercise-induced muscle fatigue, Abnormal muscle fiber... |
ORPHA:681 |
| Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Ravine Syndrome |
|
Decreased body weight, Anorexia, Abnormal brainstem morphology, Abnormal basal ganglia morphology... |
ORPHA:99852 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Stormorken Syndrome |
|
Increased muscle fatiguability, Myopathy, Short stature |
OMIM:185070 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Dysplastic corpus callosum, Obesity, Primary amenorrhea, Secondar... |
OMIM:619737 |
| Smith-Lemli-Opitz Syndrome |
|
Short stature, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Microcephaly, ... |
ORPHA:818 |
| Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplastic anterio... |
ORPHA:171680 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Tongue thrusting, Abnormal pons ... |
ORPHA:77299 |
| Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
ORPHA:243343 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Frontal bossing, Camptodactyly of finger, Microcephaly, Cryptorchidism, Hydrocephalus, Macrogloss... |
ORPHA:261337 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Increased muscle fatiguability, Failure to thrive |
OMIM:618250 |
| Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
OMIM:605850 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Abnormal lateral ventricle morphology, Growth delay, Cerebellar hypoplasia, H... |
ORPHA:488635 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Small for gestational age, Microcephaly, Cerebellar gliosis, Flexion contractur... |
ORPHA:79243 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Abnormal brainstem morphology, Aggressive behavior |
ORPHA:2382 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Hyperactivity, Cerebral white matter atrophy |
ORPHA:599373 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebellar vermis hypoplasia, Limb joint contracture, Failure to thrive in infancy, Ankle flexion... |
ORPHA:284417 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Short stature, Microcephaly, Dysplastic corpus callosum, Flexion contracture,... |
OMIM:614833 |
| Erythrocyte Lactate Transporter Defect |
|
Exercise-induced muscle fatigue |
OMIM:245340 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Biparietal narrowing |
ORPHA:228396 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Rhabdomyolysis, Exercise-induced muscle fatigue |
ORPHA:2364 |
| 20Q11.2 Microdeletion Syndrome |
|
Frontal bossing, Brainstem dysplasia, Camptodactyly, Intrauterine growth retardation, Midface ret... |
ORPHA:444051 |
| Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Exercise-induc... |
OMIM:232800 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Mucolipidosis Iv |
|
Cerebellar atrophy, Cerebral dysmyelination, Progressive neurologic deterioration, Microcephaly, ... |
OMIM:252650 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Plagiocephaly, Lateral ventricle dilatation, Macroce... |
OMIM:600348 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Simp... |
OMIM:620001 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis, Exercise-induced muscle fatigue |
ORPHA:713 |
| Congenital Hydrocephalus |
|
Frontal bossing, Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, ... |
ORPHA:2185 |
| Corticosteroid-Binding Globulin Deficiency |
|
Increased muscle fatiguability |
OMIM:611489 |
| Craniosynostosis 6 |
|
Cerebellar atrophy, Bicoronal synostosis, Turricephaly, Craniosynostosis, Microcephaly, Parietal ... |
OMIM:616602 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Frontal bossing, Ventriculomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, H... |
ORPHA:163961 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Microcephaly, Corpus callosum atrophy, Cryptorchidism, Abnormal cerebellum morphology, Deep white... |
ORPHA:565624 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Microcephaly, Hydrocephalus, Cerebral atrophy, Colpocephaly, Hypoplasia of th... |
OMIM:616034 |
| 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 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Short attention span, Impulsivity, Pontocerebellar atrophy, Lateral ventricle dilat... |
OMIM:617854 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| C Syndrome |
|
Omphalocele, Failure to thrive in infancy, Short stature, Congenital diaphragmatic hernia, Microc... |
ORPHA:1308 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Flat occiput, Partial agenesis of the corpus callosum, Simplified g... |
ORPHA:300570 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Inguinal hernia |
OMIM:261550 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Slc35A2-Cdg |
|
Cerebellar atrophy, Cerebral white matter atrophy, Failure to thrive in infancy, Limb joint contr... |
ORPHA:356961 |
| Pontocerebellar Hypoplasia Type 10 |
|
Growth delay, Abnormal brainstem morphology, Simplified gyral pattern, Abnormal cerebral cortex m... |
ORPHA:411493 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Bicoronal synostosis, Flat occiput, Microcephaly, Hypoplasia of the pons, Brachycephaly, Lateral ... |
OMIM:618736 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Loss of Purkinje cells in the cerebellar vermis, Atr... |
ORPHA:98755 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Macroglossia, Cerebel... |
OMIM:616900 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, Biparietal narrowing, Cognitive impairment |
ORPHA:935 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ventriculomegaly, Short stature, Microcephaly, Aggressive behavior, Hydrocephalus, Plagiocephaly,... |
OMIM:619833 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Short stature, Microcephaly, Hypoplasia of the pons, Hypoplastic an... |
OMIM:618325 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Frontal bossing, Inguinal hernia, Cerebellar vermis hypoplasia, Thick c... |
ORPHA:357058 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Polymicrogyria, Agenesis o... |
ORPHA:250972 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Inguinal hernia, Aggressive behavior, Large for gestational age, Bilateral cryptorchidism, Dyspla... |
ORPHA:544488 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Midface retrusion, Multiple joint contractures, Cerebellar vermis hypopl... |
OMIM:618291 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Myopathy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Increa... |
OMIM:616816 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Restlessness, Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation... |
OMIM:619517 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Microcephaly, Plagiocephaly, Colpocephaly, Cerebellar hypoplasia, Polymicrogyria, Midface retrusion |
OMIM:618731 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Lower limb amyotrophy, Li... |
ORPHA:401815 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Retrograde ejaculation, Exercise-induced muscle fatigue |
ORPHA:230 |
| Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Exercise-induced muscle f... |
ORPHA:79102 |
| Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Male infertility, Azoospermia, Cognitive impairment, Testicular atrophy |
ORPHA:276183 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| 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 |
| Adult Krabbe Disease |
|
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Progressive neurologic deter... |
ORPHA:206448 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Microcephaly, Focal polymicrogyria, Cryptorchidism, Partial agenesis of the c... |
OMIM:619103 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Small for gestational age, Microcephaly, Contractures of the large join... |
ORPHA:3078 |
| Bilateral Generalized Polymicrogyria |
|
Short stature, Microcephaly, Oral-pharyngeal dysphagia, Diffuse white matter abnormalities, Growt... |
ORPHA:208447 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Flexion contracture, Abnormal caudate nucleus morphology, Lateral ... |
ORPHA:2148 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebral white matter mor... |
OMIM:617668 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Partial Atrioventricular Septal Defect |
|
Exercise-induced muscle fatigue |
ORPHA:1330 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation,... |
OMIM:618606 |
| Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... |
ORPHA:79326 |
| Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
| Adams-Oliver Syndrome 2 |
|
Microcephaly, Hydrocephalus, Cerebral atrophy, Retrocerebellar cyst, Lateral ventricle dilatation... |
OMIM:614219 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Abnormal substantia nigra morphology, Overweight, Hyperintensity of cerebra... |
ORPHA:2822 |
| Malan Overgrowth Syndrome |
|
Frontal bossing, Scaphocephaly, Plagiocephaly, Hypoplasia of the brainstem, Lateral ventricle dil... |
ORPHA:420179 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Microcephaly, Aggressive behavior, Cryptorchidism, Corpus callosum atrophy, Simplified gyral patt... |
OMIM:619244 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Hydrocephalus, Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, Plagioc... |
OMIM:617822 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Ventriculomegaly, Short stature, Microcephaly, Dysplastic corpus callosum, Sim... |
OMIM:619179 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation... |
OMIM:613443 |
| X-Linked Intellectual Disability, Wilson Type |
|
Inguinal hernia, Microcephaly, Brachycephaly, Hydrocele testis, Growth delay, Lateral ventricle d... |
ORPHA:85290 |
| Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Severe short stature, Foot joint contracture, Abnormal midbrain morphology, Infa... |
ORPHA:444072 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Hypoglycosylation of alpha-dystroglycan, Cerebellar vermis hypoplasia, Abnormal brainstem morphol... |
ORPHA:370997 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cryptorchidism, Dysplastic corpus callosum, Small for gestational age, Intrauterine growth retard... |
OMIM:620135 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Failure to thrive in... |
ORPHA:488627 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia,... |
OMIM:607485 |
| Cog5-Cdg |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral white matter atrophy, Short stature, Campt... |
ORPHA:263487 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Growth del... |
OMIM:620156 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Progressive neurologic deterioration, Megalencephaly, Abnormal cerebral white matter morphology, ... |
OMIM:620315 |
| Bilateral Polymicrogyria |
|
Cerebellar atrophy, 4-layered lissencephaly, Aplasia/Hypoplasia of the cerebral white matter, Per... |
ORPHA:268940 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia |
ORPHA:3000 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Microcephaly, Growth delay, Lateral ventricle dilatation, Bruxism, Thin corpus callosum |
OMIM:615716 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Frontal bossing, Ventriculomegaly, Cerebellar vermis hypoplasia, Short stature, Absent septum pel... |
ORPHA:397715 |
| Joubert Syndrome 2 |
|
Frontal bossing, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Brainstem dyspl... |
OMIM:608091 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Abnormal brainstem MRI signal intensity, Uppe... |
ORPHA:254930 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Microcephaly, Dysplastic corpus callosum, Flexion contracture, Camptodactyly, Failure to thrive |
OMIM:604273 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Plagiocephaly, Frontal bossing, Lateral ventricle dilatation, Short stature |
OMIM:618330 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Lateral ventricle dilatation, Polymicrogyria |
OMIM:300982 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Failure to thrive in infancy, Short stature, Rh... |
OMIM:611209 |
| Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Choking episodes, Fai... |
OMIM:620352 |
| Even-Plus Syndrome |
|
Severe short stature, Dysplastic corpus callosum, Brachycephaly, Agenesis of corpus callosum, Mid... |
OMIM:616854 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Pachygyria |
OMIM:614870 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Ventriculomegaly, Agyria, Type II lissencephaly, Microcephaly, Cryptorchidism, Hydrocephalus, Con... |
OMIM:236670 |
| Gangliocytoma |
|
Decreased female libido, Abnormal cerebellum morphology, Abnormal brainstem morphology, Impotence... |
ORPHA:251937 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Facial palsy, Abnormal cerebellum morphology, Lateral ventricle dilatation, Distal amyotrophy, Ma... |
OMIM:256850 |
| Joubert Syndrome 1 |
|
Enlarged fossa interpeduncularis, Hyperactivity, Agenesis of cerebellar vermis, Cerebellar vermis... |
OMIM:213300 |
| Unilateral Hemispheric Polymicrogyria |
|
Cerebral hypoplasia, Thick cerebral cortex, Cortical dysplasia, Lateral ventricle dilatation |
ORPHA:101071 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short attention span, Short stature, Overweight, Dilated third ventricle, Hydrocephalus, Head-ban... |
OMIM:619575 |
| Leigh Syndrome |
|
Cerebellar atrophy, Abnormal dentate nucleus morphology, Abnormal basal ganglia MRI signal intens... |
ORPHA:506 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Midline brainstem ... |
OMIM:617542 |
| Joubert Syndrome 3 |
|
Frontal polymicrogyria, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Lateral v... |
OMIM:608629 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aggressive behavior, ... |
ORPHA:572798 |
| Distal Deletion 10Q |
|
Frontal bossing, Scapular winging, Short stature, Craniosynostosis, Aggressive behavior, Microcep... |
ORPHA:96148 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Absent septum pellucidum, Microcephaly, Colpocephaly, Chiari malformation, Decreas... |
OMIM:609053 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Short attention span, Hyperactivity, Confusion, Hamstring contractures, Male hypogonadism, Facial... |
ORPHA:139396 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Small for gestational age, Ankle flexion contracture, Microcephaly... |
ORPHA:464311 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Short attention span, Ventriculomegaly, Microcephaly, Overweight, Obesity, Brachycephaly, Lateral... |
OMIM:619229 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Dilated third ventricle, Hydroce... |
OMIM:613154 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Frontal bossing, Congenital muscular torticollis, Aggressive behavior, Dolichocephaly, Plagioceph... |
ORPHA:457279 |
| Developmental And Epileptic Encephalopathy 49 |
|
Frontal bossing, Hyperactivity, Cerebral calcification, Cerebellar vermis hypoplasia, Ventriculom... |
OMIM:617281 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Inguinal hernia, Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dil... |
OMIM:618914 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Short stature, Microcephaly, Cryptorchidism, Dysphagia, Cerebral atrop... |
OMIM:619847 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Short corpus callosum, Lateral ventricle dilatation, Brachycephaly |
OMIM:619972 |
| Holoprosencephaly 5 |
|
Trigonocephaly, Lateral ventricle dilatation, Hydrocephalus, Microcephaly |
OMIM:609637 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618890 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Increased connective tissue, Abnormal brains... |
ORPHA:258 |
| Autosomal Dominant Spastic Paraplegia Type 36 |
|
Abnormal brainstem MRI signal intensity, Dementia |
ORPHA:320365 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Short stature, Dysplastic corpus callosum, Secondary microcephaly, Generalized amyotrophy, Failur... |
OMIM:619423 |
| Duplication Of The Pituitary Gland |
|
Midface retrusion, Short stature, Abnormal midbrain morphology, Microcephaly, Abnormality of mass... |
ORPHA:314621 |
| Relapsing Polychondritis |
|
Biparietal narrowing |
ORPHA:728 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Short attention span, Frontal bossing, Hydrocephalus, Growth delay, Lateral ventr... |
OMIM:612863 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Frontal bossing, Partial agenesis of the corpus callosum, Brachycephaly, Obesity, Cerebral atroph... |
OMIM:617296 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal brainstem morphology, Impotence, Dementia, Compulsive behaviors, Dysphagia, Memory impai... |
ORPHA:93256 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Generalized amyotrophy |
ORPHA:79279 |
| Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Pseudobulbar paralysis, Co... |
OMIM:618651 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Streak ovary, Absent septum pellucidum, Acrania, Cryptorchidism, Dysplastic corpus c... |
OMIM:618820 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Frontal bossing, Microcephaly, Hydrocephalus, Simplified gyral patte... |
OMIM:615219 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Endometriosis, Dysplastic corpus callosum, Mild microcephaly, Ca... |
ORPHA:363444 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Frontal bossing, Multifocal cerebral white matter abnormalities, Subependymal cysts, Lateral vent... |
OMIM:600721 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Bainbridge-Ropers Syndrome |
|
Failure to thrive, Microcephaly, Cryptorchidism, Scaphocephaly, Growth delay, Contracture of the ... |
OMIM:615485 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Short stature, Postnatal growth retardation, Partial agenesis of the corpus callosum, Colpocephal... |
OMIM:620113 |
| Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Short stature, Microcephaly, Dysplastic corpus callosum, Self-injur... |
ORPHA:314679 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Short stature, Female infertility, Cry... |
ORPHA:261529 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal basal ganglia MRI signal intensity, Abnormal brainstem MRI signal intensity, Cognitive i... |
ORPHA:444013 |
| Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus |
ORPHA:73256 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Relative macrocephaly, Frontal bossing, Inguinal hernia, Short stature, Microcephaly, Cryptorchid... |
OMIM:151050 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Self-injurious behavior... |
OMIM:620075 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Frontal bossing, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, T... |
OMIM:614105 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| Japanese Encephalitis |
|
Skeletal muscle atrophy, Abnormal substantia nigra morphology, Abnormal midbrain morphology, Anor... |
ORPHA:79139 |
| Acute Disseminated Encephalomyelitis |
|
Hypointensity of cerebral white matter on MRI, Confusion, Aggressive behavior, Abnormal brainstem... |
ORPHA:83597 |
| Khan-Khan-Katsanis Syndrome |
|
Frontal bossing, Cerebellar vermis hypoplasia, Short stature, Microcephaly, Corneal scarring, Col... |
OMIM:618460 |
| Weaver Syndrome |
|
Inguinal hernia, Flat occiput, Absent septum pellucidum, Diastasis recti, Cryptorchidism, Macroce... |
OMIM:277590 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Relative macrocephaly, Thickened calvaria, Frontal bossing, Impulsivity, Aggressive behavior, Cry... |
OMIM:300967 |
| Semilobar Holoprosencephaly |
|
Short stature, Proboscis, Microcephaly, Hydrocephalus, Flexion contracture, Abnormal brainstem mo... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Short stature, Proboscis, Microcephaly, Hydrocephalus, Flexion contracture, Abnormal brainstem mo... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Proboscis, Microcephaly, Hydrocephalus, Flexion contracture, Abnormal brainstem mo... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Short stature, Proboscis, Microcephaly, Hydrocephalus, Flexion contracture, Abnormal brainstem mo... |
ORPHA:93924 |
| Glutamine Deficiency, Congenital |
|
Flexion contracture, Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus c... |
OMIM:610015 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Progressive neurologic deterioration, Partial agenesis of the corpu... |
OMIM:210710 |
| Gabriele-De Vries Syndrome |
|
Facial hypotonia, Cryptorchidism, Cortical dysplasia, Lateral ventricle dilatation, Distal arthro... |
OMIM:617557 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Weiss-Kruszka Syndrome |
|
Colpocephaly, Hypoplasia of the corpus callosum, Left ventricular hypertrophy, Agenesis of corpus... |
OMIM:618619 |
| Aicardi-Goutieres Syndrome 9 |
|
Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leukoencephalopathy, W... |
OMIM:619487 |
| Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Enamel hypoplasia, Focal white matter lesions, Short stature |
ORPHA:557003 |
| Joubert Syndrome 7 |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia, Abnormal corpus callos... |
OMIM:611560 |
| Mosaic Trisomy 1 |
|
Omphalocele, Frontal bossing, Cerebellar vermis hypoplasia, Camptodactyly of finger, Congenital d... |
ORPHA:1692 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Small for gestational age, Pachygyria, Cryptorchidism, Macrogyria, Colpocepha... |
OMIM:614866 |
| Prader-Willi Syndrome Due To Translocation |
|
Flat occiput, Hypogonadotropic hypogonadism, Short stature, Microcephaly, Obesity, Head-banging, ... |
ORPHA:177907 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymi... |
OMIM:617397 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Absent septum pellucidum, Large for gestational age, Microcephaly, Flexion contr... |
OMIM:300868 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal brainstem MRI signal intensity, Abnormal pyramidal tract morphology, Leukoencephalopathy... |
ORPHA:83629 |
| Zttk Syndrome |
|
Relative macrocephaly, Frontal bossing, Ventriculomegaly, Short stature, Craniosynostosis, Dyspla... |
OMIM:617140 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Chiari type I malformation, Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Chiari type I malformation, Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, ... |
ORPHA:353277 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Frontal bossing, Short stature, Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Ag... |
OMIM:617260 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Hiatus hernia, Microcephaly, Postnatal growth retardation, Partial ... |
OMIM:304050 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Frontal bossing, Flexion contracture, Lateral ventricle dilatation, Disproportionate short-limb s... |
OMIM:619479 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Small for gestational age, Microcephaly |
OMIM:619278 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Restlessness, Abnormal medulla oblongata morphology, Confusion, Abnormal mid... |
ORPHA:68 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Short stature, Absent septum pellucidum, Congenital diaphragmatic hernia, Microcephaly, Hydroceph... |
OMIM:309801 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Relative macrocephaly, Thickened calvaria, Frontal bossing, Aggressive behavior, Bilateral crypto... |
ORPHA:466791 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Cerebellar vermis hypoplasia, Short stature, Microcephaly, Cryptorchidism, Plagiocephaly, Colpoce... |
OMIM:620083 |
| Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Cerebral calcification, Short stature, Disproportionate sh... |
ORPHA:1855 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Dysplastic corpus callosum, Cerebellar hypoplasia |
OMIM:618810 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lower limb hypertonia, Lateral ventricle dilatation, Short stature, Brachycephaly |
OMIM:619995 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Choreoacanthocytosis |
|
Caudate atrophy, Peroneal muscle atrophy, Compulsive behaviors, Muscle fiber atrophy, Small basal... |
ORPHA:2388 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Ragged-red muscle fibers, Leukoencephalopathy, Hypoplasia of the corp... |
OMIM:614924 |
| Ethylmalonic Encephalopathy |
|
Abnormal basal ganglia MRI signal intensity, Abnormal brainstem MRI signal intensity, Failure to ... |
ORPHA:51188 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal putamen morphology, Abnormal brainstem |
