| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased serum estradiol, Microcornea, Cerebral atrophy, Decreased testicular size, Chorea, Peri... |
OMIM:604168 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Spasticity, Tetraparesis, Loss of ambulation, Ataxia, Spastic tetraparesis, Dysphagia, Choreoathe... |
ORPHA:225154 |
| Classic Galactosemia |
|
Diarrhea, Incoordination, Speech apraxia, Action tremor, Cryptorchidism, Decreased fertility in f... |
ORPHA:79239 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Frontotemporal cerebral atrophy, Inappropriate behavior, Abulia, Fasciculat... |
ORPHA:275864 |
| Inherited Creutzfeldt-Jakob Disease |
|
Emotional lability, Abnormal pyramidal sign, Apathy, Neuronal loss in central nervous system, Bra... |
ORPHA:282166 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Spastic paraparesis, Impaired pain sensation, Hypogonadism, Hemiplegia/hemiparesis, Gai... |
ORPHA:2815 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Fasciculations, Hyperlipidemia, Distal sensory impairment, Axonal degeneration, Decr... |
OMIM:604484 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Cerebral cortical atrophy, Inappropriate behavior, Astrocytosis, Myoclonus, Rigidity, Disinhibiti... |
OMIM:600795 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Tip-toe gait, Hand tremor, Difficulty walking, Incoordination, Dysmetria, Dis... |
OMIM:302800 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ... |
OMIM:208920 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Broad-based gait, Difficulty walking, Head tremor, Peripheral axonal neuropathy, Abnormal pyramid... |
ORPHA:320391 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Short thumb, Chorioretinal coloboma, Hearing impairment, Abnormal antihelix morphology,... |
OMIM:274205 |
| Spastic Paraparesis And Deafness |
|
Cataract, Spastic paraparesis, Hypogonadism, Tremor, Short stature |
OMIM:312910 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Spasticity, Cerebral atrophy, Akinetic mutism, Astrocytosis, Myoclonus, Abnormality of extrapyram... |
ORPHA:204 |
| Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Depression, Frontotemporal cerebral atrophy, Astrocytosis, Abnormality... |
ORPHA:100070 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Cerebellar atrophy, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypop... |
OMIM:615768 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Fasciculations, Axonal degeneration/regeneration, Distal sensory impairment, Axonal... |
OMIM:614436 |
| Developmental And Epileptic Encephalopathy 40 |
|
Cerebral cortical atrophy, Spasticity, Intrauterine growth retardation, Myoclonus, Lethargy, Spas... |
OMIM:617065 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Cerebral cortical atrophy, Vomiting, Failure to thrive, Lethargy, Ataxia |
ORPHA:622 |
| Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
| 46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... |
OMIM:612965 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Shuffling gait, Broad-based gait, Resting tremor, Abnormal fear-induced behavior, Obesity, Tremor... |
ORPHA:3077 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Optic atrophy, Spasticity, Emotional lability, Lethargy, Gait disturbance, Gliosis, Primary ameno... |
OMIM:603896 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
| Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... |
ORPHA:98797 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal lethargy, Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Para... |
OMIM:606777 |
| Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... |
OMIM:301101 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Oculogyric crisis, Generalized dystonia, Postural tremor, Gait ataxia, Myoclonus, Limb dystonia, ... |
ORPHA:101150 |
| Spinocerebellar Ataxia 43 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... |
OMIM:617018 |
| Spermatogenic Failure 20 |
|
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circ... |
ORPHA:3453 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Limb dystonia, Emotional lability, Parkinsonism, Abnormal pyramidal sign, Dysphagia, ... |
ORPHA:216873 |
| Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
| Isochromosomy Yq |
|
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar... |
ORPHA:98798 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
| Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Optic atrophy, Vomiting, Cerebellar atrophy, Failure to thrive, Growth delay, Irritability, Babin... |
OMIM:618226 |
| Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Chorea, Abnormal erythrocyte morphology, Myoclonus, Hemiparesis, Paralysis, Apraxia, ... |
ORPHA:71277 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Diarrhea, Failure to thrive, Hypogonadism, Decreased testicular size, Decreased serum testosteron... |
OMIM:201100 |
| Spermatogenic Failure 65 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... |
OMIM:619712 |
| Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Difficulty walking, Inability to walk, Myoclonus, Lethargy, Ataxia, Dystonia |
OMIM:617829 |
| Spermatogenic Failure 84 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:620409 |
| Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
| Isolated Atp Synthase Deficiency |
|
Spastic paraplegia, Cerebral cortical atrophy, Optic atrophy, Cerebellar atrophy, Cataract, Hypog... |
ORPHA:254913 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Failure to thrive, Cerebral atrophy, Lethargy, Tetraplegia, Hypertonia, Hyperactiv... |
OMIM:274270 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Low-set ears, Hypoplastic scapulae, Elevated circulating luteinizing hormone level, Clinodactyly,... |
ORPHA:95699 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:619689 |
| De Sanctis-Cacchione Syndrome |
|
Severe short stature, Optic atrophy, Spasticity, Global brain atrophy, Keratitis, Cerebral atroph... |
OMIM:278800 |
| Severe Canavan Disease |
|
Optic atrophy, Spasticity, Gastroesophageal reflux, Vomiting, Oral-pharyngeal dysphagia, Inabilit... |
ORPHA:314911 |
| Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar ataxia |
ORPHA:276183 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| 4H Leukodystrophy |
|
Optic atrophy, Cataract, Cerebellar atrophy, Decreased response to growth hormone stimulation tes... |
ORPHA:289494 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue fasciculations, Basal lamina onion bulb formation, Difficulty walking, Abnormal cranial ne... |
OMIM:601596 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Sensory axonal neuropathy, Inability to walk, Decreased number of large peripheral myelinated ner... |
ORPHA:98856 |
| Spermatogenic Failure 56 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:619515 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... |
OMIM:617319 |
| Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Azoospermia, Ataxia, Testicular atrophy, Infertility |
OMIM:613909 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Spastic paraplegia, Failure to thr... |
OMIM:238970 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Male hypogonadism, Resting tremor, Bruxi... |
OMIM:300055 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Spasticity, Depression, Microphallus, Abnormal cerebellum morpholog... |
OMIM:300957 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Hypertrophic nerve changes, Basal lamina onion bulb formation, Distal sensory impairment, Axonal ... |
OMIM:214400 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... |
OMIM:301059 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Abnormality of extrapyramidal motor function, Lethargy, Abnormal pyramidal sign, Episodic vomitin... |
OMIM:618224 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Distal sensory impairment, Paralysis, Lethargy, Peripheral axonal neuropathy |
OMIM:613710 |
| Ring Chromosome Y Syndrome |
|
Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... |
ORPHA:261529 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls |
OMIM:615945 |
| Cach Syndrome |
|
Spasticity, Hepatosplenomegaly, Hemiparesis, Apathy, Primary amenorrhea, Premature ovarian insuff... |
ORPHA:135 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Tongue fasciculations, Falls, Failure to thrive, Microcytic anemia, Axonal degeneration, Clonus |
OMIM:618811 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Spermatogenic Failure 40 |
|
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Axonal degener... |
OMIM:606482 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... |
OMIM:620084 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Truncal titubation, Cataract, Impaired vibration sensation in the lower limbs, Gait ataxia, Posit... |
ORPHA:88628 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Small scrotum, Xerostomia, Absence of pubertal development, Type II diabete... |
ORPHA:398079 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Cataract, Limb ataxia, Gait ataxia |
OMIM:617133 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Gait disturbance, Steppage gait, Distal sensory impairment, Axonal degeneration |
OMIM:616155 |
| Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic atrophy, Hearing impairment, Tremor, Optic disc pallor |
OMIM:165300 |
| Spermatogenic Failure 39 |
|
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... |
OMIM:618643 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Gait disturbance, Failure to thrive, Anorexia |
ORPHA:79283 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Cerebellar vermis hypoplasia, Spasticity, Gastroesophageal reflux, Cerebellar atrophy, Failure to... |
OMIM:611523 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebral cortical atrophy, Depression, Cerebellar atrophy, Myoclonus, Gait ataxia, Tremor, Abnorm... |
OMIM:615362 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... |
OMIM:619585 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomo... |
OMIM:617145 |
| Hemochromatosis, Type 2A |
|
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Lethargy, Infertility |
OMIM:602390 |
| Peroxisome Biogenesis Disorder 8B |
|
Spasticity, Spastic paraparesis, Peripheral demyelination, Loss of ambulation, Clonus, Ataxia, Un... |
OMIM:614877 |
| Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... |
ORPHA:325124 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyr... |
OMIM:615924 |
| Short Syndrome |
|
Abnormality of the dentition, Abnormal mandible morphology, Hypoplasia of the iris, Megalocornea,... |
ORPHA:3163 |
| 1Q21.1 Microduplication Syndrome |
|
Cataract, Gastroesophageal reflux, Failure to thrive, Cryptorchidism, Attention deficit hyperacti... |
ORPHA:250994 |
| Spermatogenic Failure 47 |
|
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebral cortical atrophy, Spasticity, Optic atrophy, Cerebellar atrophy, Postural tremor, Dysmet... |
OMIM:607694 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... |
ORPHA:90793 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Cataract, Cerebellar atrophy, Hand tremor, Cere... |
OMIM:614409 |
| Glycine Encephalopathy 1 |
|
Myoclonus, Irritability, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Depression, Decreased response to growth hormone stimulation test, Decreased testicular size, Cer... |
ORPHA:457240 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Sensory axonal neuropathy, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dysto... |
ORPHA:309169 |
| Cerebrotendinous Xanthomatosis |
|
Spasticity, Spastic paraparesis, Resting tremor, Parkinsonism, Paraparesis, Abnormal pyramidal si... |
ORPHA:909 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Spasticity, Depression, Tremor, Hemiparesis, Ataxia, Intention tremor, Hypergonadotropi... |
OMIM:614307 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Obesity, Intrauterine growth retardation, Limb dystonia, Tremor, Cerebellar hypoplasia, Aggressiv... |
OMIM:620270 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... |
OMIM:614561 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cerebral cortical atrophy, Cataract, Microcornea, Chorea, Paresthesia, Intrauterine growth retard... |
ORPHA:48431 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Abnormality iris morphology... |
ORPHA:1617 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic atrophy, Vomiting, Failure to thrive, Lethargy, Abnormal pyramidal sign, Ataxia, Optic disc... |
OMIM:618228 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Optic atrophy, Iris cyst, Sensorineural hearing impairment |
OMIM:620086 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... |
OMIM:615157 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:614822 |
| Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor |
ORPHA:423296 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... |
ORPHA:168563 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Cataract, Diarrhea, Vomiting, Generalized dystonia, Cerebral atrophy, Neurodegeneration, Chorea, ... |
OMIM:618321 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... |
OMIM:614841 |
| Woolly Hair Nevus |
|
Precocious puberty, Heterochromia iridis, Enlarged vestibular aqueduct, Brachydactyly, Persistent... |
ORPHA:79414 |
| Riboflavin Transporter Deficiency |
|
Iris hypopigmentation, Cerebral cortical atrophy, Hypogonadism, Myoclonus, Abnormal cranial nerve... |
ORPHA:97229 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchi... |
ORPHA:398069 |
| Supranuclear Palsy, Progressive, 1 |
|
Falls, Cerebral atrophy, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Tremor, Rigidity, ... |
OMIM:601104 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Abnormal pupil morphology, Hearing impairment |
ORPHA:101082 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Parkinsonism, Primary amenorrhea, Premature ovarian insufficiency, Bradykinesia, ... |
OMIM:157640 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella |
OMIM:620196 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Tetraparesis, Action tremor, Opisthotonus, Paraparesis, Abnormal pyramidal si... |
OMIM:607483 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia |
OMIM:613571 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Pe... |
OMIM:607317 |
| Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... |
OMIM:612964 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Absent testis, Male ... |
ORPHA:983 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... |
OMIM:620135 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor |
ORPHA:217012 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility |
OMIM:618670 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Fifth finger distal phalanx clinodactyly, Low-set ears, Small hand, Broad long bones, Micrognathi... |
OMIM:257850 |
| Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation |
OMIM:141500 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome, Hypospadias |
OMIM:201710 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Failure to thrive, Myoclonus, Dysmetria, Irritability, Lethargy, Head titubation, Ataxia, Truncal... |
OMIM:250620 |
| Adrenomyeloneuropathy |
|
Spasticity, Male sexual dysfunction, Female sexual dysfunction, Progressive spastic paraparesis, ... |
ORPHA:139399 |
| Spinocerebellar Ataxia 38 |
|
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Peripheral axonal neuropa... |
OMIM:615957 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Slender long bone, Cleft upper lip, Congenital adrenal hyperplasia, Increas... |
ORPHA:96181 |
| Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:612997 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Cerebral atrophy, Episodic ataxia, Myoclonus, Tremor, Lethargy, Dyston... |
OMIM:312170 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Spasticity, Vomiting, Myoclonus, Lethargy, Ataxia, Brain atrophy |
OMIM:618225 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... |
OMIM:277000 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... |
OMIM:213200 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Spasticity, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Loss o... |
OMIM:615838 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Optic atrophy, Conical tooth, Dental malocclusion, Clinodactyly, Sandal gap, Ectopia pu... |
OMIM:618727 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Gastroesophageal reflux, Failure to thrive, Cerebral atrophy, Cryptorchidism, Lethargy, Thrombocy... |
OMIM:614857 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Spinocerebellar Ataxia 48 |
|
Depression, Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Irritability, Babinski si... |
OMIM:618093 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Failure to thrive, Intrauterine growth retardation, Lethargy, Hypertonia, Dystonia |
ORPHA:26792 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligozoospermia, Male infertility |
OMIM:258150 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Failure to thrive, Intrauterine growth retardation, Axonal degeneration, Peripheral axonal degene... |
OMIM:604320 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Cerebral cortical atrophy, Falls, Resting tremo... |
OMIM:617225 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... |
OMIM:614837 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Spasticity, Diarrhea, Vomiting, Failure to thrive, Cerebral atrophy, Lethargy, Gait disturbance, ... |
OMIM:250940 |
| Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
| Martsolf Syndrome 2 |
|
Cataract, Decreased body weight, Hypogonadotropic hypogonadism, Developmental cataract, Short sta... |
OMIM:619420 |
| Otodental Syndrome |
|
Carious teeth, Periodontitis, Lens coloboma, Iris coloboma, Cataract, Microcornea, Abnormality of... |
ORPHA:2791 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Difficulty walking, Slender build, Inability to walk, Astrocytosis, Diabetes insipidus |
OMIM:611087 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypogonadism, Decreased testicular size, Cerebellar vermis atrophy, Gait ataxia, Cryptorchidism, ... |
OMIM:300354 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Gait disturbance, Failure to thrive |
ORPHA:26 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... |
OMIM:616053 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Cerebral cortical atrophy, Failure to thrive, Cerebral atrophy, Hyperkinetic m... |
OMIM:236270 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Hypospadias, Adrenal... |
OMIM:201910 |
| Familial Hyperaldosteronism Type I |
|
Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal ... |
ORPHA:403 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of endocrine pancreas physiology, Hypogonadism, Lethargy, Impotence, Diabetes mellitus |
ORPHA:79230 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microcornea, Hypogonadism, Short stature, Progressive spasticity, Growth delay |
ORPHA:2528 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
| Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d... |
ORPHA:363710 |
| Familial Hyperaldosteronism Type Ii |
|
Secretory adrenocortical adenoma, Adrenal hyperplasia, Tinnitus, Abnormal circulating renin, Gluc... |
ORPHA:404 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Inability to walk, Decreased number of peripheral myelinated nerve fibers, Axon... |
OMIM:615490 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Difficulty walking, Axonal degeneration, Abnormal lower motor neur... |
OMIM:602433 |
| Wolfram Syndrome 1 |
|
Optic atrophy, Cataract, Growth delay, Cerebral atrophy, Sideroblastic anemia, Tremor, Hypothyroi... |
OMIM:222300 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cataract, Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Gait ataxi... |
OMIM:224050 |
| Cyclic Vomiting Syndrome |
|
Ataxia, Vomiting, Attention deficit hyperactivity disorder, Lethargy, Anorexia, Nausea, Growth delay |
OMIM:500007 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... |
ORPHA:251282 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo... |
ORPHA:98762 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
| Doors Syndrome |
|
Low-set ears, Atresia of the external auditory canal, Short lingual frenulum, Open mouth, Adrenal... |
ORPHA:79500 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Axonal degeneration, Peripheral axonal neuropathy, Craniofacial dystonia, Diaphragmatic paralysis... |
OMIM:620011 |
| Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Action tremor, Obsessive-compulsive trait, Parkinsonism, Premature ovarian insuff... |
OMIM:300623 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Decreased circulating T4 concentration, Lethargy, Short stature, Growth delay, Reduced TSH respon... |
OMIM:618573 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Depression, Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Up... |
ORPHA:401901 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Fasciculations, Decreased fertility, Tremor, Testicular atrophy, Dysphagia |
OMIM:313200 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c... |
OMIM:610185 |
| Proteus-Like Syndrome |
|
Cataract, Mandibular prognathia, Thymus hyperplasia, Abnormality of the parathyroid gland, Open b... |
ORPHA:2969 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hyperaldosteronism, Adrenal hyperplasia, Tinnitus, Abnormal circulating renin, Athetosis |
ORPHA:369929 |
| Ogden Syndrome |
|
Shuffling gait, Cerebral atrophy, Postnatal growth retardation, Cryptorchidism, Lethargy, Hyperto... |
ORPHA:276432 |
| Citrullinemia Type Ii |
|
Diarrhea, Vomiting, Decreased body mass index, Delayed menarche, Abnormal eating behavior, Hyperl... |
ORPHA:247585 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Chorea, Bradykinesia, Ataxia |
OMIM:618683 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Spinocerebellar Ataxia 12 |
|
Cerebral cortical atrophy, Depression, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria,... |
OMIM:604326 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Male pseudohermaphroditism, Ambiguous genitalia, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Hyperkinetic movements, Irritability, Lethargy, Limb hypertonia, Dystonia, Dysp... |
OMIM:233910 |
| Microphthalmia/Coloboma 10 |
|
Iris coloboma, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
| Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... |
OMIM:618117 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:619828 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Failure to thrive, Anorexia, Splenomegaly, Lethargy, Neutropenia, Thrombocytopenia... |
ORPHA:79312 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Polydipsia, Irritability, Lethargy, Weight loss, Diabetes insipidus, Growth d... |
ORPHA:30925 |
| Cofs Syndrome |
|
Cerebral cortical atrophy, Optic atrophy, Cataract, Hypogonadism, Intrauterine growth retardation... |
ORPHA:1466 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis, Hemiparesis |
OMIM:607341 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Depression, Growth delay, Failure t... |
ORPHA:90674 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Optic atrophy, Chorea, Hemiplegia/hemiparesis, Lethargy, Neutropenia, Thrombocytopenia, Anemia, D... |
ORPHA:289916 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Cerebral cortical atrophy, Type I diabetes mellitus, Cryptorchidism, Tremor, Gait disturbance, Ap... |
ORPHA:1192 |
| 48,Xxyy Syndrome |
|
Gastroesophageal reflux, Depression, Decreased testicular size, Azoospermia, Obesity, Type II dia... |
ORPHA:10 |
| Laurence-Moon Syndrome |
|
Cataract, Obesity, Type II diabetes mellitus, Cryptorchidism, Displacement of the urethral meatus... |
ORPHA:2377 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Growth delay, Cerebellar vermis atrophy, Gait atax... |
OMIM:614381 |
| Early Myoclonic Encephalopathy |
|
Lethargy, Myoclonus, Dysphagia |
ORPHA:1935 |
| Anterior Segment Dysgenesis 3 |
|
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... |
OMIM:601631 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Difficulty walking, Decreased nerve conduction velocity, Inability to walk, Abnormal pupil morpho... |
ORPHA:90658 |
| Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Cerebral palsy, Intrauterine growth retardation, Tremor, Lethargy, Abnormal pyramidal... |
ORPHA:765 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Vomiting, Diarrhea, Failure to thrive, Paraplegia, Emotional lability, Lethargy, Ataxia, Nausea, ... |
ORPHA:927 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Gait disturbance |
ORPHA:1875 |
| Ataxia-Telangiectasia |
|
Spasticity, Failure to thrive, Aplasia/Hypoplasia of the thymus, Lymphopenia, Type II diabetes me... |
ORPHA:100 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypoplasia of the pons, Difficulty walking, Speech apraxia, Head tremor, Type II diabetes mellitu... |
ORPHA:412057 |
| Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... |
OMIM:219080 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... |
OMIM:201810 |
| Spermatogenic Failure 44 |
|
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... |
OMIM:619044 |
| Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Hypoplasia of the antihelix, Short thumb, Chorioretinal coloboma, Hearing impairment, A... |
ORPHA:2489 |
| Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... |
OMIM:617690 |
| Kennedy Disease |
|
Type II diabetes mellitus, Decreased fertility, Gait disturbance, Testicular atrophy, Erectile dy... |
ORPHA:481 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Cerebral cortical atrophy, Cataract, Pseudobulbar paralysis, Decreased serum testosterone concent... |
ORPHA:101006 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... |
OMIM:308700 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Progressive spastic quadriplegia, Abnormal pyramidal sign, Apathy, Ataxia, Dysp... |
OMIM:312080 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Pappenheimer bodies, Positive Romberg sign, Cryptorchidism, Weight loss, Cl... |
OMIM:301310 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cataract, Depression, Sensory axonal neuropathy, Cerebral atrophy, Hypogonadism, Abnormality of t... |
OMIM:609286 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Axonal degeneration, Waddling gait |
OMIM:618138 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Dela... |
ORPHA:330050 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
| Trisomy 9P |
|
Dental crowding, Downturned corners of mouth, Impacted tooth, Abnormal pupil morphology, Protrudi... |
ORPHA:236 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a... |
ORPHA:79263 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Cerebellar atrophy, Decreased testicular size, Obesity, Hyperinsulinemia, Type II diabe... |
ORPHA:3085 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Attention deficit hyperactivity disorder, Oligozoospermia, Macroo... |
ORPHA:3000 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Peripheral axonal neuropathy, Ataxia, Bradykinesia, Dysphagia, Cataract, Gastroes... |
ORPHA:254892 |
| Morm Syndrome |
|
Cataract, Aggressive behavior, Hyperactivity, Truncal obesity, Micropenis |
ORPHA:75858 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Depression, Cerebellar atrophy, Resting tremor, Gait ataxia, Limb dystonia, Emotional lability, P... |
ORPHA:71517 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Diarrhea, Paresthesia, Lethargy, Megaloblastic anemia, Thrombocytopenia, Anorexia,... |
ORPHA:49827 |
| Distal Deletion 6P |
|
Low-set ears, Abnormality of the dentition, Abnormal epiphysis morphology, Hearing impairment, Do... |
ORPHA:96125 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Spastic paraplegia, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cr... |
OMIM:308750 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy, Gliosis, Hemiparesis |
OMIM:613002 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Spasticity, Axonal degeneration/regeneration, Distal sensory impairment, Tremor, D... |
OMIM:609260 |
| Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Depression, Cerebellar dentate nucleus calcification, Chorea, Limb dysmetria, Tremor, Rigidity, D... |
OMIM:213600 |
| Cockayne Syndrome Type 1 |
|
Hearing impairment, Difficulty walking, Cryptorchidism, Anodontia, Delayed eruption of primary te... |
ORPHA:90321 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
| Perrault Syndrome 1 |
|
Cerebellar atrophy, Gonadal dysgenesis, Gait ataxia, Primary amenorrhea, Ataxia, Increased circul... |
OMIM:233400 |
| Familial Hyperaldosteronism Type Iii |
|
Tinnitus, Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyp... |
ORPHA:251274 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... |
OMIM:610245 |
| Alpha-Mannosidosis |
|
Cataract, Abnormal helix morphology, Craniofacial hyperostosis, Dental malocclusion, Hearing impa... |
ORPHA:61 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Ectopic kidney |
OMIM:601076 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Cryptorchidism, Tremor, Chronic constipation, Pontocerebellar atrophy, Cerebellar... |
OMIM:618060 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Cerebellar vermis atrophy, Bruxis... |
OMIM:617435 |
| Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Low-set ears, Cataract, High, narrow palate, Broad thumb, Shuffling gait, Broad hallux, Malar fla... |
ORPHA:3433 |
| Citrullinemia Type I |
|
Spasticity, Gastroesophageal reflux, Vomiting, Failure to thrive, Ankle clonus, Lethargy, Tortico... |
ORPHA:247525 |
| Leukoencephalopathy With Vanishing White Matter 2 |
|
Optic atrophy, Spasticity, Cataract, Premature ovarian insufficiency, Unsteady gait, Secondary am... |
OMIM:620312 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, Increased ci... |
ORPHA:90790 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:612310 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Tremor, Pancreatic islet-cell hyperplasia, Increased body weight, Lethargy, Hyp... |
ORPHA:276608 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n... |
OMIM:610532 |
| Alexander Disease |
|
Microcoria, Dysmetria, Ataxia |
OMIM:203450 |
| Wagr Syndrome |
|
Cataract, Obesity, Cryptorchidism, Aplasia/Hypoplasia of the iris, Displacement of the urethral m... |
ORPHA:893 |
| Alagille Syndrome |
|
Keratoconus, Short distal phalanx of finger, Cholestasis, Abnormal pupil morphology, Micrognathia... |
ORPHA:52 |
| Amyotrophy, Hereditary Neuralgic |
|
Short stature, Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
| Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:103900 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Abnormally prominent line of Schwalbe, Abnormal auditory evoked potent... |
OMIM:109120 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Ectopia pupillae, Recurrent otitis media, Hypoplastic inferior ilia, Short metacarpal, Increased ... |
OMIM:608940 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Hsd10 Disease |
|
Optic atrophy, Spastic paraparesis, Frontotemporal cerebral atrophy, Postnatal growth retardation... |
ORPHA:391417 |
| Spinocerebellar Ataxia Type 27 |
|
Depression, Cerebellar atrophy, Sensory axonal neuropathy, Hand tremor, Difficulty walking, Akine... |
ORPHA:98764 |
| Dystonia 11, Myoclonic |
|
Depression, Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive beh... |
OMIM:159900 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Premature Ovarian Failure 18 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... |
OMIM:619203 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Behr Syndrome |
|
Optic atrophy, Cerebellar atrophy, Sensory axonal neuropathy, Cerebellar vermis atrophy, Dysmetri... |
OMIM:210000 |
| Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Sensory axonal neuropathy, Tremor, Dysmetria, Progressive gait ataxia, Babins... |
OMIM:607458 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... |
OMIM:615830 |
| Spinocerebellar Ataxia 42 |
|
Loss of Purkinje cells in the cerebellar vermis, Depression, Cerebellar atrophy, Tremor, Babinski... |
OMIM:616795 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Long philtrum, Broad finger, Astigmatism, Thin upper lip ver... |
OMIM:617523 |
| Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Depression, Bradykinesia, Chorea, Action tremor, Rigidity, Irritabilit... |
OMIM:606438 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Diffuse cerebr... |
ORPHA:314632 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Decreased libido, Splenomegaly, Hypogonadotropic hypo... |
ORPHA:465508 |
| Central Neurocytoma |
|
Pain insensitivity, Depression, Paresthesia, Babinski sign, Lethargy, Ataxia |
ORPHA:73256 |
| Developmental And Epileptic Encephalopathy 41 |
|
Spasticity, Cerebral atrophy, Tetraparesis, Inability to walk, Irritability, Babinski sign, Lethargy |
OMIM:617105 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Spastic paraplegia, Spasticity, Optic atrophy, Cerebellar atrophy, Cataract, Hypogonadism, Macroc... |
ORPHA:98673 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Vomiting, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Tetraparesis, Cerebral cortica... |
OMIM:203700 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Degeneration of the striatum, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesi... |
OMIM:609161 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Peripheral axonal ... |
OMIM:618387 |
| Tonne-Kalscheuer Syndrome |
|
Self-injurious behavior, Spasticity, Broad-based gait, Growth delay, Decreased testicular size, C... |
OMIM:300978 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Dystonia, Ataxia |
OMIM:246900 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Loss of ambulation, Babin... |
ORPHA:521406 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, High pala... |
OMIM:617519 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... |
OMIM:614831 |
| Ovarian Dysgenesis 9 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... |
OMIM:619665 |
| Short Stature-Micrognathia Syndrome |
|
Small scrotum, Rhizomelia, Gastroesophageal reflux, Cerebellar atrophy, Failure to thrive, Catara... |
OMIM:617164 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr... |
OMIM:618090 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo... |
OMIM:278850 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticit... |
OMIM:617916 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Cerebral cortical atrophy, Spasticity, Optic atrophy, Tremor, Aggressive behavior, Hyperactivity,... |
OMIM:300983 |
| Neuroectodermal Melanolysosomal Disease |
|
Cerebral cortical atrophy, Spasticity, Optic atrophy, Tremor, Rigidity, Cerebellar hypoplasia, Ce... |
ORPHA:33445 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Shuffling gait, Prelingual sensorineural hearing impairment, Generalized dystonia,... |
ORPHA:52368 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Depression, Global brain atrophy, Cerebellar atrophy, Growth delay, Chorea, Action tremor, Tremor... |
OMIM:619738 |
| Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae, Malar flattening, Mandibular prognathia |
ORPHA:1885 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic atrophy, Spasticity, Cataract, Cerebellar atrophy, Gait ataxia, Cryptorchidism, Peripheral ... |
ORPHA:496790 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Failure to thrive, Sideroblastic anemia, Lethargy, Dysphagia |
OMIM:613561 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Optic atrophy, Tetraparesis, Leukopenia, Macrocytic anemia, Lethargy, Paraparesis, Thrombocytopen... |
ORPHA:27 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Spasticity, Tremor, Ataxia, Growth delay, Small for gestational age |
OMIM:278780 |
| Holocarboxylase Synthetase Deficiency |
|
Ataxia, Irritability, Keratoconjunctivitis, Lethargy, Weight loss, Thrombocytopenia, Anorexia, Gr... |
ORPHA:79242 |
| 46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Vanishing testis, Aplasia of the uterus, Elevated... |
OMIM:273250 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Spastic paraparesis, Polycythemia, Difficulty walking, Astrocytosis, Action tremor, Splenomegaly,... |
ORPHA:309854 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Impaired tandem ... |
OMIM:619028 |
| Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Leukopenia, Long thumb, Acute myeloid leukemia, Adrenal hypoplasia, ... |
OMIM:619151 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Chorea, Encopresis, Emotional lability, Obsessive-com... |
ORPHA:66624 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Elevated circulating creatinine concentration, Ureteropelvic junction obstruc... |
OMIM:154230 |
| Myotonic Dystrophy 1 |
|
Cataract, Cholelithiasis, Cerebral atrophy, Hypogonadism, Facial diplegia, Obsessive-compulsive t... |
OMIM:160900 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Diarrhea, Gastroesophageal reflux, Myoclonus, Limb dystonia, Em... |
OMIM:608643 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Spasticity, Childhood-onset truncal obesity, Truncal obesity, Micropenis |
OMIM:610156 |
| Satoyoshi Syndrome |
|
Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of the ovary, Abnormal hip ... |
ORPHA:3130 |
| Segawa Syndrome, Autosomal Recessive |
|
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Difficulty walking, Impaired vibration sensation in the lower limbs, Loss of ambulation, Peripher... |
ORPHA:137898 |
| Propionic Acidemia |
|
Vomiting, Failure to thrive, Cerebral atrophy, Pancytopenia, Lethargy, Constipation, Limb hyperto... |
OMIM:606054 |
| Central Diabetes Insipidus |
|
Depression, Diarrhea, Polydipsia, Failure to thrive, Lethargy, Weight loss, Anorexia, Diabetes in... |
ORPHA:178029 |
| 3-Methylglutaconic Aciduria, Type V |
|
Optic atrophy, Failure to thrive, Decreased testicular size, Normochromic microcytic anemia, Post... |
OMIM:610198 |
| Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... |
OMIM:620103 |
| Idiopathic Intracranial Hypertension |
|
Vomiting, Depression, Abnormal emotion, Obesity, Lethargy, Papilledema, Nausea |
ORPHA:238624 |
| Dystonia 12 |
|
Depression, Bradykinesia, Emotional lability, Tremor, Dystonia, Parkinsonism, Torticollis, Unstea... |
OMIM:128235 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Spasticity, Vomiting, Failure to thrive, Lethargy, Ataxia |
ORPHA:2394 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,... |
OMIM:611302 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Secondary growth hormone deficiency, Cataract, Absence of secondary sex characteristics, Decrease... |
ORPHA:2410 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Abnormal male internal genitalia morphology, Abnormal morphology of female interna... |
ORPHA:2138 |
| Leydig Cell Hypoplasia |
|
Male hypogonadism, Breast aplasia, Increased circulating gonadotropin level, Hypoplasia of the Le... |
ORPHA:755 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:600649 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Optic atrophy, Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating... |
OMIM:231550 |
| Susac Syndrome |
|
Somatic sensory dysfunction, Abnormal emotion, Gait ataxia, Lethargy, Apathy, Upper motor neuron ... |
ORPHA:838 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Hearing impairment, Cleft upper lip, Chorioretinal coloboma, Iris coloboma, Cleft palate |
OMIM:120433 |
| Methylcobalamin Deficiency Type Cble |
|
Vomiting, Increased mean corpuscular volume, Failure to thrive, Postnatal growth retardation, Pan... |
ORPHA:2169 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Astigmatism, Cranio... |
OMIM:617284 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cataract, Abnormal auditory evoked potentials, Irregular epiphyses, Irregular dentition, Sensorin... |
OMIM:619260 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Optic atrophy, Clitoral hypertrophy, Cataract, Cerebellar atrophy, Failure to thrive, Cerebellar ... |
OMIM:614866 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Tremor, Gait distu... |
ORPHA:544254 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Hypoplastic ilia, Abnormal epiphysis morphology, Metaphyseal spurs, Flared metap... |
ORPHA:85167 |
| Woolly Hair |
|
Cataract, Abnormal pupil morphology |
ORPHA:170 |
| Marinesco-Sjögren Syndrome |
|
Severe short stature, Optic atrophy, Spasticity, Cataract, Hypogonadism, External genital hypopla... |
ORPHA:559 |
| Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... |
OMIM:620356 |
| Galactokinase Deficiency |
|
Cataract, Nuclear cataract, Failure to thrive, Speech apraxia, Hepatosplenomegaly, Hyperinsulinem... |
ORPHA:79237 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Carious teeth, Periodontitis, Open bite, Genu valgum, Micrognathia, Open mouth, Cryp... |
ORPHA:534 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Spasticity, Involuntary movements, Gastroesophageal reflux, Failure to thrive, Cer... |
ORPHA:442835 |
| Typhoid |
|
Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Tremor, Lethargy, Constipation, Hypertonia, ... |
ORPHA:99745 |
| Multiple System Atrophy, Cerebellar Type |
|
Broad-based gait, Neuromuscular dysphagia, Depression, Resting tremor, Postural tremor, Limb atax... |
ORPHA:227510 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Mildly elevated creatine kinase |
OMIM:600705 |
| Tay-Sachs Disease |
|
Incoordination, Mania, Dysphagia, Poor fine motor coordination, Precocious puberty, Depression, G... |
ORPHA:845 |
| Spinocerebellar Ataxia 7 |
|
Optic atrophy, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor functio... |
OMIM:164500 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Obesity, Intrauterine growth retardation, Tremor, Hemiparesis, Hype... |
OMIM:619737 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensa... |
ORPHA:3095 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Spasticity, Cerebral atrophy, Tetraparesis, Hyperinsulinemia, Gait ataxi... |
ORPHA:363400 |
| Cockayne Syndrome A |
|
Carious teeth, Square pelvis bone, Hypoplastic iliac wing, Cryptorchidism, Hip contracture, Senso... |
OMIM:216400 |
| Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Peripheral demyelination, Spastic ataxia, Abnormal pyramidal sign, Clonus, Torticolli... |
ORPHA:397946 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Trem... |
ORPHA:98763 |
| Usher Syndrome Type 1 |
|
Iris hypopigmentation, Cataract, Abnormal dental enamel morphology, Sensorineural hearing impairm... |
ORPHA:231169 |
| Renpenning Syndrome |
|
High, narrow palate, Cataract, Mandibular prognathia, Hypospadias, Macrodontia, Decreased testicu... |
ORPHA:3242 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cataract, Ulnar deviation of finger, Tooth malposition, Low-set, posteriorly rotated ears, Furrow... |
ORPHA:1387 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Abnormal lower motor ne... |
ORPHA:2590 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| 47,Xyy Syndrome |
|
Varicocele, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Azoospermia, Cryptorchidis... |
ORPHA:8 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Ataxia |
ORPHA:99852 |
| Multifocal Atrial Tachycardia |
|
Lethargy, Hypothyroidism, Cryptorchidism |
ORPHA:3282 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Spastic paraplegia, Optic atrophy, Cataract, Impaired vibration sensation in the lower limbs, Pos... |
OMIM:270800 |
| Cockayne Syndrome Type 3 |
|
Lentiglobus, Cataract, Microcornea, Gastroesophageal reflux, Cerebellar dentate nucleus calcifica... |
ORPHA:90324 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Cataract, Abnormality of tibial epiphyses, Arthralgia of the hip, Metaphyseal spurs, Abnormal han... |
ORPHA:166011 |
| Dystonia-Deafness Syndrome 1 |
|
Cataract, Hypoplastic scapulae, Oculogyric crisis, Generalized dystonia, Cleft upper lip, Leg dys... |
OMIM:607371 |
| Spinocerebellar Ataxia Type 42 |
|
Upper limb postural tremor, Impotence, Depression, Cerebellar atrophy, Resting tremor, Cerebellar... |
ORPHA:458803 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| 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 |
