| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, At... |
OMIM:604168 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Choreoathetosis, Hypertonia, Gastroesophageal reflux, Atrophy/Degeneration involving... |
ORPHA:225154 |
| Classic Galactosemia |
|
Vomiting, Lethargy, Male infertility, Premature ovarian insufficiency, Ataxia, Cryptorchidism, Se... |
ORPHA:79239 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Abulia, Astrocytosis, Fro... |
ORPHA:275864 |
| Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... |
ORPHA:282166 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Hand... |
OMIM:604484 |
| 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 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Astrocytosis, Inappropriate behavior,... |
OMIM:600795 |
| Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Short stature, Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Hypogonadism, G... |
ORPHA:2815 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Peripheral axonal degeneration, Decreased number of peripheral myelinated ner... |
OMIM:302800 |
| 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 |
| 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 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Peripheral axonal degeneration, Dystonia, Ataxia, Decreased number of large p... |
OMIM:208920 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal pyramidal sign, Spastic dysarthria, Head tremor, Ataxia, Upper limb spasticity, Truncal ... |
ORPHA:320391 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu... |
ORPHA:204 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract |
OMIM:274205 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spastic Paraparesis And Deafness |
|
Cataract, Short stature, Tremor, Hypogonadism, Spastic paraparesis |
OMIM:312910 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Hyperactivity, Resting tremor, Short stature, Parkinsonism, Anorexia, Aggr... |
ORPHA:3077 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Impaired distal vibration sensation, Axonal degeneration, Distal ... |
OMIM:614436 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Developmental And Epileptic Encephalopathy 40 |
|
Small for gestational age, Spastic tetraparesis, Choreoathetosis, Myoclonus, Intrauterine growth ... |
OMIM:617065 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Ataxia, Vomiting, Lethargy, Failure to thrive, Cerebral cortical atrophy |
ORPHA:622 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Premature ovarian insufficiency, Decreased circulating progesterone, Unsteady gait, Optic atrophy... |
OMIM:603896 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism... |
OMIM:615768 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathetosis, Hemi... |
OMIM:606777 |
| Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... |
OMIM:617018 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Ine... |
ORPHA:216873 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
| De Sanctis-Cacchione Syndrome |
|
Severe short stature, Ataxia, Bilateral cryptorchidism, Keratitis, Axonal degeneration, Optic atr... |
OMIM:278800 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Galactosemia Ii |
|
Cataract, Hypergalactosemia, Galactosuria |
OMIM:230200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Optic atrophy, Growth delay, Irritability, V... |
OMIM:618226 |
| 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 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Testicular atrophy |
ORPHA:276183 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract, 3-Methylglutaconic aciduria |
OMIM:619813 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesi... |
ORPHA:71277 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Short stature... |
OMIM:300957 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Lethargy, Spasticity |
OMIM:617829 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
ORPHA:98856 |
| Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Testicular atrophy |
OMIM:613909 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Optic atrophy, Cerebral atrophy, Tetraplegia, Growth delay, Hypertonia, Lethargy, ... |
OMIM:274270 |
| Severe Canavan Disease |
|
Oral-pharyngeal dysphagia, Inability to walk, Babinski sign, Optic atrophy, Irritability, Gastroe... |
ORPHA:314911 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Short stature, Tremor, Splenomegaly, Diarrhea, Irritability, Hypogonadism, Emotional labi... |
OMIM:201100 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| 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 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 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... |
OMIM:601596 |
| 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 |
| 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 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Cataract, Ataxia, Short stature, Spastic paraplegia, Optic atrophy, Tetrapleg... |
ORPHA:254913 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic gait, D... |
OMIM:238970 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Peripheral axonal neuropathy, Paralysis, Distal sensory impairment, Difficulty walking, Lethargy |
OMIM:613710 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, Lethargy... |
OMIM:618224 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Cataract, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circul... |
ORPHA:3453 |
| Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... |
ORPHA:261529 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Clonus, Microcytic anemia, Axonal degeneration, Falls, Tongue fasciculations, Failure to thrive |
OMIM:618811 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... |
OMIM:214400 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
| 1Q21.1 Microduplication Syndrome |
|
Cataract, Hypospadias, Cryptorchidism, Hypertonia, Gastroesophageal reflux, Attention deficit hyp... |
ORPHA:250994 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... |
OMIM:300055 |
| 4H Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Hypogonadotropic hypogonadism, Decreased response to growth... |
ORPHA:289494 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Overweight, Tremor, Self-mu... |
ORPHA:457240 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Axona... |
ORPHA:90103 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Cerebellar atrophy, Lower limb spasticity, Cataract, Babinski sign,... |
OMIM:614409 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Cach Syndrome |
|
Dysmetria, Vomiting, Premature ovarian insufficiency, Secondary amenorrhea, Hepatosplenomegaly, G... |
ORPHA:135 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Lethargy, Amenorrhea |
OMIM:602390 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Cataract, Ataxia, Bowel incontinence, Truncal titubation, Axonal degeneration, Impaired vibration... |
ORPHA:88628 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Steppage gait, Axonal degeneration, Gait disturbance, Distal sensory impairment |
OMIM:616155 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive, Gait disturbance, Anorexia |
ORPHA:79283 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Cerebellar atrophy, Appendicular spasticity, Lower limb spasticity, Cerebellar vermis hypoplasia,... |
OMIM:611523 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Depress... |
OMIM:615362 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Impaired temperature sensation, Xerostomia, Clitoral ... |
ORPHA:398079 |
| Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Constipation... |
OMIM:614877 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, M... |
OMIM:615924 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia... |
OMIM:620270 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Myoclonus, Lethargy |
OMIM:605899 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Cataract, Limb ataxia, Gait ataxia, Spastic gait |
OMIM:617133 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Chorea, Abnormal pyramidal sign, Gait ataxia, Opisthotonus, Hypertonia, Vomiting, Lethargy, Facia... |
OMIM:607483 |
| Sandhoff Disease, Adult Form |
|
Dystonia, Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dysphagia, Spasticity, Sensory axo... |
ORPHA:309169 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Limb... |
OMIM:617145 |
| 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 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
| Spinocerebellar Ataxia 17 |
|
Diffuse cerebral atrophy, Chorea, Dysmetria, Gait ataxia, Gliosis, Intention tremor, Ataxia, Park... |
OMIM:607136 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Peripheral axonal degeneration, Diminished motivation, Tremor, Dysmetria, Gait ataxia, Compulsive... |
OMIM:615157 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Ataxia, Optic atrophy, Abnormal pyramidal sign, Vomiting, Brain atrophy, Letha... |
OMIM:618228 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Ataxia, Hypogonadotropic hypogonadism, Short stature, Abnormal pyramidal sign, Dysmetri... |
ORPHA:48431 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Impaired distal proprioception, Hand tremor, Gait ataxia, Premature ovarian insufficiency, Facial... |
OMIM:157640 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
| Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Gliosis, Juvenile cataract, Hypothyroidism, Abnorma... |
ORPHA:909 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Ataxia, Hypogonadotropic hypogonadism, Short stature, Postural trem... |
OMIM:607694 |
| Short Syndrome |
|
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal dental enamel morphology, Abn... |
ORPHA:3163 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
| Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral... |
OMIM:601104 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Hypergonadotropic hypogonadism, Ataxia, Tremor, Depression, Hemiparesis, Spasticity, In... |
OMIM:614307 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Generalized dystonia, Ataxia, Dystonia, Cataract, Aggressive behavior, Diarrhea, Ch... |
OMIM:618321 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Cerebral atrophy, Growth delay, Normochromic anemia, Gastroesophageal reflux, Neu... |
OMIM:614857 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Dysmetria, Irritability, Myoclonus, Truncal ataxia, Lethargy, ... |
OMIM:250620 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Impaired temperature sensation, Xerostomia, Increased... |
ORPHA:398069 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abn... |
OMIM:607317 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Cataract, Hypogonadism, Gait disturbance, Abnormality of the ovary |
ORPHA:1875 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Cerebellar atrophy, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Cleft upper lip, Cleft palate, Hydrocele testis, Slender long bone, Increas... |
ORPHA:96181 |
| Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia |
OMIM:141500 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ataxia, Vomiting, Myoclonus, Brain atrophy, Lethargy, Spasticity |
OMIM:618225 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Aggressive behavior, Tremor, Iris hypopigmenta... |
ORPHA:97229 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, Myoclonus, Dystonia, Episod... |
OMIM:312170 |
| Spinocerebellar Ataxia 38 |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... |
OMIM:615957 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Woolly Hair Nevus |
|
Precocious puberty, Widely-spaced incisors, Persistent pupillary membrane, Heterochromia iridis, ... |
ORPHA:79414 |
| Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Limb atax... |
OMIM:213200 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Sensorineural hearing impairment, Iris cyst, Optic atrophy |
OMIM:620086 |
| Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Bowel incontinence, Atrophy/Degeneration involving the corticospi... |
ORPHA:139399 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Cerebral atro... |
OMIM:615838 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... |
ORPHA:90791 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysm... |
OMIM:618093 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Diabetes insipidus, Cataract, Megaloblastic anem... |
OMIM:222300 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Abnormal pupil morphology, Hearing impairment |
ORPHA:101082 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Hypertonia, Dystonia, Intrauterine growth retardation, Failure to thrive, Lethargy |
ORPHA:26792 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Small for gestational age, Axonal degeneration, Diaphragmatic par... |
OMIM:604320 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Cerebellar atrophy, Peripheral axonal neuropathy, Resting tremor, A... |
OMIM:617225 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... |
ORPHA:403 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinetic movements, Dysphagia, Let... |
OMIM:233910 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Microcornea, Persistent pupillary membr... |
OMIM:257850 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive, Gait disturbance |
ORPHA:26 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Hypospadias, Short stature, Aggressive behavior, Tremor, Cryptorchidism, Gait atax... |
OMIM:300354 |
| Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... |
OMIM:612964 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Fragile X Tremor/Ataxia Syndrome |
|
Diffuse cerebral atrophy, Dysmetria, Gait ataxia, Hypothyroidism, Intention tremor, Premature ova... |
OMIM:300623 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| 2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Toe syndactyly, Cataract, Camptodactyly of finger, Long finger... |
ORPHA:1617 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism, Tetra... |
ORPHA:1381 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Diabetes insipidus, Inability to walk, Astrocytosis, Difficulty walking, Slender build |
OMIM:611087 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Decreased fertility, Fasciculations, Dysphagia, Testicular atrophy |
OMIM:313200 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... |
OMIM:602433 |
| Laurence-Moon Syndrome |
|
Hypoplasia of penis, Cataract, Ataxia, Short stature, Cryptorchidism, Obesity, Type II diabetes m... |
ORPHA:2377 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Megaloblastic anemia, Cerebral atrophy, Hypertonia, Hyperkinetic movements, Ga... |
OMIM:236270 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Athetosis, Hyperaldosteronism, Dexamethasone-sup... |
ORPHA:369929 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome |
OMIM:201910 |
| Ogden Syndrome |
|
Torticollis, Postnatal growth retardation, Cryptorchidism, Cerebral atrophy, Hypertonia, Shufflin... |
ORPHA:276432 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Broad-based gait, Cataract, Short stature, Dysmetria, Gait ataxia, Dysdiadoch... |
OMIM:224050 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... |
ORPHA:2501 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
| Cyclic Vomiting Syndrome |
|
Ataxia, Anorexia, Growth delay, Vomiting, Attention deficit hyperactivity disorder, Lethargy, Nausea |
OMIM:500007 |
| Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Hypertriglyceridemia, Aggressive behavior, Abnormal eating behavior,... |
ORPHA:247585 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Tremor, Cryptorchidism, Hypertonia, Gait disturbance, Type I diabetes mellitus, Ap... |
ORPHA:1192 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Broad-based... |
OMIM:615490 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Frequent falls, Crani... |
OMIM:620011 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy... |
ORPHA:401901 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Lower limb spasticity, Premature ovarian insufficiency, Cataract, Abnormal cerebellum morphology,... |
ORPHA:101006 |
| Martsolf Syndrome 2 |
|
Cataract, Short stature, Hypogonadotropic hypogonadism, Spastic diplegia, Developmental cataract,... |
OMIM:619420 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Short stature, Trem... |
OMIM:610185 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Short stature, Growth delay, Decreased circulating T4 concentration, Reduced TSH response to thyr... |
OMIM:618573 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Chorea, Ataxia |
OMIM:618683 |
| 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 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Broad hallux, Sandal gap, Conical tooth, Persistence of primary teeth, Optic atrophy, D... |
OMIM:618727 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Diabetes mellitus, Ataxia, Short stature, Tremor, Polycystic ovaries, Aplasia/... |
ORPHA:100 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Short stature, Growth delay, Microcornea, Hypogonadism, Progressive spasticity |
ORPHA:2528 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Reduced radioactive iodine uptake, Decreased circula... |
ORPHA:90674 |
| Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Downturned corners of mo... |
ORPHA:79500 |
| Focal Cortical Dysplasia, Type Ii |
|
Hemiparesis, Astrocytosis |
OMIM:607341 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Abnormality of endocrine pancreas physiology, Impotence, Hypogonadism, Lethargy |
ORPHA:79230 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic... |
ORPHA:330050 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Anorexia, Splenomegaly, Optic atrophy, Choreoathetosis, Anemia, Neutropenia, Lethargy, ... |
ORPHA:79312 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired vibration sensat... |
ORPHA:251282 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
| Leukoencephalopathy With Vanishing White Matter 2 |
|
Premature ovarian insufficiency, Cataract, Unsteady gait, Optic atrophy, Secondary amenorrhea, Sp... |
OMIM:620312 |
| Wagr Syndrome |
|
Cataract, Short stature, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the iris, Dysfunction of ... |
ORPHA:893 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Anemia, Growth delay, N... |
ORPHA:289916 |
| Hereditary Central Diabetes Insipidus |
|
Diarrhea, Weight loss, Growth delay, Irritability, Vomiting, Lethargy, Polydipsia, Diabetes insip... |
ORPHA:30925 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Chroni... |
OMIM:618060 |
| Early Myoclonic Encephalopathy |
|
Lethargy, Myoclonus, Dysphagia |
ORPHA:1935 |
| Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Growth delay, Gait dist... |
ORPHA:765 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... |
OMIM:219080 |
| Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Diarrhea, Paraplegia, Vomiting, Agitation, Emotional lability, Failure to thrive, Abnorma... |
ORPHA:927 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Axonal degeneration |
OMIM:618138 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Kennedy Disease |
|
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula... |
ORPHA:481 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Restlessness, Parkinsonism, Temporal cortical atrophy, As... |
ORPHA:100070 |
| 48,Xxyy Syndrome |
|
Hypoplasia of penis, Hypergonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Obesity, Dep... |
ORPHA:10 |
| Pelizaeus-Merzbacher Disease |
|
Writer's cramp, Tremor, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, Ataxia, Short... |
OMIM:312080 |
| Wilson-Turner Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Short stature, Cryptorchidism, Truncal obesity, Emotiona... |
ORPHA:3459 |
| Otodental Syndrome |
|
High-frequency sensorineural hearing impairment, Delayed eruption of teeth, Cataract, Abnormal de... |
ORPHA:2791 |
| Cofs Syndrome |
|
Cataract, Short stature, Optic atrophy, Hypertonia, Hypogonadism, Aplasia/Hypoplasia of the cereb... |
ORPHA:1466 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Ataxia, Hypogonadotropic hypogonadism, Short stature, Tremor, Optic... |
OMIM:614381 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Micrognathia, Abnormal rib morphology, Cleft palate, Hypoplasia of the uterus, A... |
OMIM:601076 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... |
OMIM:308700 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho... |
ORPHA:79263 |
| Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Cataract, Open bite, Splenomegaly, Abnormal pupil morp... |
ORPHA:2969 |
| Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Hypospadias, Short stature, Aggressive behavior, Tremor, Cryptorchidism, Blue i... |
OMIM:300978 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Lethargy, Gliosis |
OMIM:613002 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Decreased nerve conduction velocity, Inability to walk, Abnormal pupil morphology, Split hand, Se... |
ORPHA:90658 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... |
OMIM:308750 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:618117 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Tremor, Babinski sign, Optic atrophy, Dis... |
OMIM:609260 |
| Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Br... |
OMIM:617435 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
| Short Stature-Micrognathia Syndrome |
|
Cerebellar atrophy, Small scrotum, Ataxia, Short stature, Rhizomelia, Cataract, Cryptorchidism, G... |
OMIM:617164 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Cataract, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hype... |
ORPHA:3085 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... |
OMIM:213600 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula... |
OMIM:202010 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls |
ORPHA:494526 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... |
ORPHA:3000 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Gait ataxia, Hypertonia, Gastroesophageal reflux, Lethargy, Hypothyroidism, Hyperthyroidi... |
ORPHA:254892 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Male ... |
ORPHA:90790 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Short stature, Anorexia, Megaloblastic anemia, Diarrhea, Optic atrophy, Parest... |
ORPHA:49827 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Trisomy 9P |
|
Dental crowding, Abnormal pupil morphology, Non-midline cleft lip, Protruding ear, Downturned cor... |
ORPHA:236 |
| Citrullinemia Type I |
|
Torticollis, Ataxia, Slurred speech, Ankle clonus, Gastroesophageal reflux, Vomiting, Lethargy, S... |
ORPHA:247525 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... |
OMIM:600116 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... |
OMIM:614129 |
| 3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Ataxia, Postnatal growth retardation, Cryptorchidism, Optic atrophy, Normochromic mi... |
OMIM:610198 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Axonal degeneration, Short stature |
OMIM:162100 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Premature ovarian insufficiency, Diabetes mellitus, Parkinsonism, Cataract, Abnormality of the th... |
OMIM:609286 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplas... |
ORPHA:496790 |
| Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Micrognathia, Abnormality of the dentition, Orofacial cle... |
ORPHA:96125 |
| Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Depression, ... |
ORPHA:98764 |
| Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism, Cataract, Intrauterine growth retardation |
ORPHA:2489 |
| Hsd10 Disease |
|
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotem... |
ORPHA:391417 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:617690 |
| Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
| Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... |
OMIM:607458 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell hyperplasia, Hy... |
ORPHA:276608 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... |
OMIM:615830 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to w... |
OMIM:618090 |
| Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Optic atrophy, Unsteady gait, Dysmetria, Dysph... |
OMIM:210000 |
| Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Babinski sign, Cerebral atrophy, Irritability, Tetraparesis, Lethargy, Spasticity |
OMIM:617105 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykine... |
ORPHA:314632 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Filippi Syndrome |
|
Cerebellar atrophy, Dystonia, Postnatal growth retardation, Cryptorchidism, Optic atrophy, Decrea... |
OMIM:272440 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Encopresis, Chorea, Depression, Clumsiness... |
ORPHA:66624 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Ataxia, Dystonia |
OMIM:246900 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Central Neurocytoma |
|
Pain insensitivity, Ataxia, Babinski sign, Depression, Paresthesia, Lethargy |
ORPHA:73256 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Dysmetria, Distal sensory impai... |
OMIM:618387 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Hypoplasia of the uterus, Leukopeni... |
OMIM:619151 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl... |
ORPHA:521406 |
| Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level |
OMIM:240950 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebral corti... |
ORPHA:33445 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Perrault Syndrome 1 |
|
Cerebellar atrophy, Ataxia, Short stature, Increased circulating gonadotropin level, Spastic dipl... |
OMIM:233400 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Short stature, Tremor, Inability to walk, A... |
OMIM:614831 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Tremor, Cerebral atrophy, Dysmetria,... |
OMIM:617916 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Growth delay, Dysphagia, Lethargy, Failure to thrive |
OMIM:613561 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depressi... |
OMIM:619738 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Cataract, Elevated circulating creatine kinase concentration |
OMIM:615184 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Senso... |
OMIM:109120 |
| Satoyoshi Syndrome |
|
Tapered finger, Abnormality of the humerus, Nephrogenic diabetes insipidus, Abnormal femur morpho... |
ORPHA:3130 |
| Alexander Disease |
|
Microcoria, Ataxia, Dysmetria |
OMIM:203450 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Spasticity, Cerebral cortical ... |
OMIM:300983 |
| Alagille Syndrome |
|
Keratoconus, Hypoplasia of the ulna, Hepatomegaly, Corneal dystrophy, Micrognathia, Cryptorchidis... |
ORPHA:52 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Small for gestational age, Ataxia, Tremor, Growth delay, Spasticity |
OMIM:278780 |
| Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Tremor, Uveitis, Widely spaced primar... |
ORPHA:90321 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Diarrhea, Tongue thrusting, Babinsk... |
OMIM:608643 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Rigidity, Splenomegaly, Astrocytosis, Bradykinesia, Poor fine motor coordination, Dysdi... |
ORPHA:309854 |
| Holocarboxylase Synthetase Deficiency |
|
Ataxia, Anorexia, Weight loss, Growth delay, Irritability, Keratoconjunctivitis, Lethargy, Thromb... |
ORPHA:79242 |
| Myotonic Dystrophy 1 |
|
Cataract, Cerebral atrophy, Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-c... |
OMIM:160900 |
| Insulinoma |
|
Tremor, Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Fasting hyperinsu... |
ORPHA:97279 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tande... |
OMIM:619028 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom... |
ORPHA:227510 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Ataxia, Thrombocytopenia, Paraparesis, Optic atrophy, Choreoathetosis, Leukope... |
ORPHA:27 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Hypothyroidism, Weight loss, Apat... |
ORPHA:465508 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Ast... |
OMIM:203700 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... |
ORPHA:320401 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... |
ORPHA:276435 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Impaired distal proprioception, Tremor, Impaired vibration sensation in the lower limbs, Hyperton... |
ORPHA:137898 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Cataract, Hypospadias, Small for gestational age, Brushfield spots, Cryptorch... |
OMIM:614866 |
| Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors |
OMIM:159900 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
| Idiopathic Intracranial Hypertension |
|
Papilledema, Obesity, Depression, Vomiting, Abnormal emotion, Lethargy, Nausea |
ORPHA:238624 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Symmetric peripheral demyelination, Bowel incontinence, Corpus callosum atrophy, Abnormal... |
OMIM:169500 |
| Propionic Acidemia |
|
Pancytopenia, Dystonia, Short stature, Thrombocytopenia, Cerebral atrophy, Constipation, Vomiting... |
OMIM:606054 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619203 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Cerebellar atrophy, Macrocytic anemia, Diabetes mellitus, Ataxia, Cataract, Corpus callosum atrop... |
ORPHA:98673 |
| Central Diabetes Insipidus |
|
Anorexia, Diarrhea, Depression, Weight loss, Lethargy, Polydipsia, Failure to thrive, Diabetes in... |
ORPHA:178029 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Cln5 Disease |
|
Cerebellar atrophy, Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, ... |
ORPHA:228360 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Cataract, Cryptorchidism, Cerebellar hypoplasia, Neonatal death, Spasticity |
OMIM:613730 |
| Dystonia 12 |
|
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dysphagia, ... |
OMIM:128235 |
| Multifocal Atrial Tachycardia |
|
Cryptorchidism, Hypothyroidism, Lethargy |
ORPHA:3282 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... |
OMIM:611302 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Sensorineur... |
ORPHA:52368 |
| Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, A... |
ORPHA:458803 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... |
OMIM:154230 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Ataxia, Vomiting, Lethargy, Spasticity, Failure to thrive |
ORPHA:2394 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619665 |
| Renal Hypoplasia, Bilateral |
|
Short stature, Small for gestational age, Cryptorchidism, Growth delay, Astigmatism, Lethargy, Fa... |
ORPHA:97362 |
| Susac Syndrome |
|
Somatic sensory dysfunction, Gait ataxia, Abnormal emotion, Apathy, Lethargy, Upper motor neuron ... |
ORPHA:838 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dysto... |
OMIM:617284 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Lower limb hypertonia, Increased m... |
ORPHA:2169 |
| Warburg Micro Syndrome 3 |
|
Decreased testicular size, Lower limb spasticity, Small scrotum, Cataract, Postnatal growth retar... |
OMIM:614222 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Spasticity, Truncal obesity, Micropenis, Childhood-onset truncal obesity |
OMIM:610156 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Cataract, Aplasia/Hypoplasia of the cerebellum, Cryptorchidism, Disproportio... |
ORPHA:2772 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Short stature, Impulsivity, Abnormality of coordination, Tremor, Involuntary movements, R... |
ORPHA:442835 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Typhoid |
|
Gastrointestinal hemorrhage, Ataxia, Tremor, Splenomegaly, Diarrhea, Hypertonia, Constipation, Le... |
ORPHA:99745 |
| Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
| Autosomal Spastic Paraplegia Type 58 |
|
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... |
ORPHA:397946 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability... |
ORPHA:3095 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Hypertriglyceridemia, Ataxia, Hyperactivity, Poor motor coordination, Tremor, Ab... |
ORPHA:363400 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cardiomyopathy, Cataract, Elevated circulating creatine kinase concentration |
OMIM:615352 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Cataract, Tremor, Cryptorchidism, Cerebellar hy... |
OMIM:620327 |
| Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Tinnitus, Decreased c... |
ORPHA:231580 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Micrognathia, Abnormal pupil morphology, ... |
ORPHA:233 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Lower limb spasticity, Cataract, Postural tremor, Impaired distal proprioception, Abnormal cerebe... |
OMIM:270800 |
| Retinitis Pigmentosa |
|
Keratoconus, Hypoplasia of penis, Cataract, Optic atrophy, Obesity, Hyperinsulinemia, Hypogonadis... |
ORPHA:791 |
| Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Gait disturbance, Abnor... |
ORPHA:544254 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Hepatosplenomeg... |
ORPHA:2590 |
| Tay-Sachs Disease |
|
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Pre... |
ORPHA:845 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... |
ORPHA:96184 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| 47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Hypospadias, Small for gestational age, Rhizomelia, Cryptorchidism, Lethargy, Micr... |
OMIM:607143 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Thin upper lip vermilion, Abnormal auditory evoked potentials, Astigmatism, Hi... |
OMIM:617523 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Mildly elevated creatine kinase |
OMIM:600705 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
| N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive, Vomiting, Aggressive behavior |
OMIM:237310 |
| Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Cleft palate, Gait ataxia, Hypoplasia of the uterus, Hy... |
OMIM:615300 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Limb dystonia, Lethargy, Basal gang... |
OMIM:604377 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Optic disc pallor, Hypergonadotropic hypogonadism, Tremor, Hypoesth... |
OMIM:619737 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Cataract, Mild postnatal growth retardation, Spl... |
ORPHA:90324 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Aminoaciduria, Cataract |
ORPHA:79238 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Chorioretinal dysplasia, Micrognathi... |
ORPHA:534 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Emotional ... |
OMIM:616269 |
| Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy |
OMIM:612437 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... |
OMIM:606159 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Cerebral cortical hemiatro... |
ORPHA:306669 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Depression, Gait ataxia, Progressive cerebellar ataxia, Dysdiad... |
ORPHA:254881 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Overriding aorta, Sclerocornea, Ovotestis, Ventricular septal defect, Hypo... |
OMIM:309801 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Ataxia, Irritability, Vomiting, Lethargy, Failure to thrive |
OMIM:237300 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Optic atrophy, Vomiting, Myoclonus, Abnormality of extrapyramidal motor function, Letharg... |
OMIM:614299 |
| Marinesco-Sjögren Syndrome |
|
Severe short stature, Ataxia, External genital hypoplasia, Cataract, Rigidity, Optic atrophy, Hyp... |
ORPHA:559 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Lethargy, Small for gestational age |
OMIM:610498 |
| Dihydropyrimidinase Deficiency |
|
Growth delay, Lethargy, Abnormal pyramidal sign, Extrapyramidal dyskinesia |
OMIM:222748 |
| Galactokinase Deficiency |
|
Speech apraxia, Premature ovarian insufficiency, Small for gestational age, Hypergonadotropic hyp... |
ORPHA:79237 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Short stature, Increased circulating gonadotropin level... |
ORPHA:2410 |
| Galactose Mutarotase Deficiency |
|
Hepatomegaly, Cataract, Hypergalactosemia |
ORPHA:570422 |
| Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Short stature, Crypto... |
OMIM:307030 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
| Hyperferritinemia With Or Without Cataract |
|
Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Bruxism, Cerebral atrophy, Choreoathetosis, Growth delay... |
OMIM:619422 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Corneal opacity, Metaphyseal spurs, ... |
ORPHA:85167 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Cln3 Disease |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Cataract, Aggressive behavior, Vacu... |
ORPHA:228346 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the... |
ORPHA:432 |
| Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Corneal opacity, Short stature, Cataract, Weight loss, Abnormal testis morphology |
ORPHA:317 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Short stature, Hyperlipidemia, Irritability, Lethargy, Failure to thrive |
ORPHA:2089 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Cataract, Cryptorchidism, Dysphagia, Intrauterine growth retardation, Failure to thrive |
OMIM:618958 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cataract, Small for gestational age, Cryptorchidism... |
OMIM:214150 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Diabetes mellitus, Ataxia, Short stature, Cataract, Cryptorchidism, Hypothyroid... |
OMIM:616541 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Irregular dentition, Cataract, Ataxia, Abnormal auditory evoked potentials, Se... |
OMIM:619260 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-onset diabetes ... |
ORPHA:324575 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ... |
ORPHA:189427 |
| Gaba-Transaminase Deficiency |
|
Lethargy, Cerebellar hypoplasia |
OMIM:613163 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Rieger anomaly, Hypospadias, Decreased response to growth hormone stimu... |
OMIM:180500 |
| Seckel Syndrome 7 |
|
Abnormal carpal morphology, Central hypothyroidism, Hypoplasia of the uterus, Hip dysplasia, Micr... |
OMIM:614851 |
| Angelman Syndrome |
|
Tremor, Gastroesophageal reflux, Vomiting, Iris hypopigmentation, Keratoconus, Hyperactivity, Ata... |
ORPHA:72 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Hemiparesis, Lethargy |
OMIM:617900 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Peters anomaly, Atrial septal ... |
OMIM:618652 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Hepatosplenomegaly |
OMIM:273680 |
| Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:601455 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Tongue atrophy, Inability to walk, Sensorineural heari... |
ORPHA:99949 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Apathy, Dystonia, Par... |
ORPHA:240085 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski si... |
OMIM:616505 |
| Spinocerebellar Ataxia 2 |
|
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo... |
OMIM:183090 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Elevated hemoglobin A1c, Sh... |
OMIM:616113 |
| Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus... |
OMIM:208900 |
| Lesch-Nyhan Syndrome |
|
Dystonia, Short stature, Megaloblastic anemia, Opisthotonus, Choreoathetosis, Self-injurious beha... |
OMIM:300322 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Sensorineural hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae o... |
OMIM:602482 |
| Cockayne Syndrome A |
|
Mandibular prognathia, Tremor, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, ... |
OMIM:216400 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Cachexia, Diarrhea, Vomiting, Lethargy |
ORPHA:42 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating cortisol level, Orthostatic hypotension, Ataxia, Optic atrophy, Anisocoria,... |
OMIM:231550 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism |
ORPHA:363741 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... |
ORPHA:240103 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Postnatal ... |
ORPHA:453533 |
| Usher Syndrome Type 1 |
|
Cataract, Ataxia, Depression, Subcortical cerebral atrophy, Aplasia/Hypoplasia of the cerebellum,... |
ORPHA:231169 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Irr... |
OMIM:261640 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Premature ovarian in... |
ORPHA:199299 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Cataract, Slurred speech, Limb ataxia, Dysmetria, Ankle clonus, Progressive c... |
ORPHA:284289 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Posteriorly rotated ears, Decreased response to growth hormone stimula... |
OMIM:615866 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Agitation, Type I diabetes mellitus, Hyperinsulinemi... |
ORPHA:276575 |
| Isolated Ectopia Lentis |
|
Mandibular prognathia, Cataract, Ectopia lentis, Ectopia pupillae, Malar flattening |
ORPHA:1885 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar ... |
OMIM:617810 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Agitation, Type I diabetes mellit... |
ORPHA:276580 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... |
OMIM:600363 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... |
OMIM:273250 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Axonal degeneration, Poor coordination, Neurodegeneration, Myoclonic spasms, Di... |
ORPHA:478029 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia, Irrit... |
OMIM:275350 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Aggressive behavior |
ORPHA:208441 |
| Hypermanganesemia With Dystonia 2 |
|
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... |
OMIM:617013 |
| Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosi... |
OMIM:612126 |
| Müllerian Aplasia And Hyperandrogenism |
|
Cleft palate, Protruding ear, Hypoplasia of the uterus, Short philtrum, Increased serum testoster... |
ORPHA:247768 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... |
OMIM:614298 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Short stature, Po... |
ORPHA:1170 |
| Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Ataxia, Tapered finger, Micrognathia, Sensorineural hearing impairment, Protruding ... |
ORPHA:2479 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Spasticity, G... |
OMIM:616811 |
| Young-Onset Parkinson Disease |
|
Restless legs, Gastroparesis, Impulsivity, Tremor, Rigidity, Diarrhea, Spasticity, Depression, Br... |
ORPHA:2828 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Meckel Syndrome 12 |
|
Ureteral hypoplasia, Antecubital pterygium, Renal hypoplasia, Hypoplasia of the uterus, Vaginal a... |
OMIM:616258 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Abnormal mitochondrial shape, Ataxia, Cerebellar ve... |
ORPHA:543470 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe... |
OMIM:235200 |
| Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Elevate... |
OMIM:609441 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Cranial nerv... |
ORPHA:652 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:607734 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Distal sensory impairment, Gait ataxi... |
OMIM:616719 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Short stature, Rigidity, Tremor, Chiari type I malformation, Bradykinesia, Dystonia |
OMIM:617836 |
| Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Hip contracture, Pursed lips, Dental crowding, Shoulder flexion contractur... |
OMIM:193700 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm, Cataract |
ORPHA:523 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Posteriorly rotated ears, Elevated circulating luteinizing hormone level, Bifid... |
OMIM:618419 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Agitation, Hyperinsulinemic hypoglycemia, Excessive insulin response t... |
ORPHA:276556 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Cerebral atrophy, Dysphagia |
OMIM:618637 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Medulloblastoma |
|
Ataxia, Cerebellar calcifications, Dysmetria, Abnormal cranial nerve morphology, Progressive cere... |
ORPHA:616 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Symmetric peripheral demyelination, Tremor, Leukocytosis, Distal sen... |
ORPHA:206594 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Cataract, Small for gestational age, Cerebral atrophy, Hypertonia, Cerebellar... |
OMIM:615095 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Dilated Cardiomyopathy With Ataxia |
|
Lower limb spasticity, Hypoplasia of penis, Dystonia, Ataxia, Bilateral cryptorchidism, Repetitiv... |
ORPHA:66634 |
| Cri-Du-Chat Syndrome |
|
Hyperactivity, Cataract, Small for gestational age, Hypospadias, Aggressive behavior, Cryptorchid... |
OMIM:123450 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... |
ORPHA:309246 |
| Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Ataxia, Short stature, Tremor, Inability to walk, Limb ataxia, Primary amenorrhe... |
OMIM:617675 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia, Loss of ambulation, Int... |
OMIM:615010 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Astigmatism, Cerebellar hypoplasia, Attention defi... |
OMIM:619556 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Tremor, Ivory epiphyses of the phalanges of the hand, Microcornea, Hypopla... |
OMIM:133540 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cataract, Ataxia, Tremor, Depression, Hematochezia, Hypogonadism, Type II diabetes mellitus, Chol... |
ORPHA:79095 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Facial palsy, Inability to walk, Dysphagia, Astrocytosis, Pontocerebellar atrophy, Gastroesophage... |
ORPHA:258 |
| Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Short stature, Tremor, Developmental cataract, Hypertonia |
ORPHA:1368 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Optic disc pallor, Hypospadias, Ataxia, Optic neuropathy, Splenomegaly, Babin... |
OMIM:252010 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Hypergonadotropic hypogonadism, Ataxi... |
OMIM:607426 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy,... |
ORPHA:329284 |
| Galactosemia I |
|
Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, ... |
OMIM:230400 |
| Warburg Micro Syndrome 2 |
|
Small scrotum, Cataract, Postnatal growth retardation, Cryptorchidism, Optic atrophy, Spastic dip... |
OMIM:614225 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Neuromuscular dysphagia, Slurred speech, Tetraplegia, Clum... |
ORPHA:206443 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Cataract, Short stature, Corpus callosum atrophy, Tremor, Impaired distal vibration sensation, Ba... |
OMIM:616586 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Cataract, Hypospadias, Ataxia, Gastroparesis, Small for gestational age, Tremor, Cryptorchidism, ... |
OMIM:614052 |
| Myopathy With Extrapyramidal Signs |
|
Hyperactivity, Peripheral axonal neuropathy, Ataxia, Clonus, Tremor, Splenomegaly, Leukocytosis, ... |
OMIM:615673 |
| Familial Dysautonomia |
|
Abnormal peritoneum morphology, Orthostatic hypotension, Corneal opacity, Ataxia, Abnormal pupil ... |
ORPHA:1764 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Atrophy of the spinal cord, Optic atrophy, Hemiparesis, Gait distu... |
ORPHA:395 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Tremor, Diarrhea, Hyperinsulinemia, Increased body weight, Agitation, ... |
ORPHA:263455 |
| Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Weight loss... |
OMIM:137440 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Decreased nerve cond... |
ORPHA:101085 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Bipolar affective disorder, Short stature, Tremor, Compulsive behaviors, Attention deficit hypera... |
ORPHA:370079 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Microcornea, Conductive hearing impairment, Clinodactyly of ... |
ORPHA:2710 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, Short stature, Gait imbalance |
OMIM:618120 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Severe temper tantrums, Aggressive behavior... |
OMIM:617710 |
| Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Bradykinesia, ... |
ORPHA:683 |
| 48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Tremor, Cryptorchidism, Obesity, Azoospermia, Irritability, H... |
ORPHA:96263 |
| Wolf-Hirschhorn Syndrome |
|
Micrognathia, Orofacial cleft, Downturned corners of mouth, Short philtrum, Conductive hearing im... |
OMIM:194190 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function, Myoclonus, Faci... |
OMIM:605711 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
| X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Emotional ... |
ORPHA:542310 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Growth delay, Dystonia, Ocul... |
OMIM:612716 |
| 49,Xxxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Short stature, Tremor, Cryptorchidism, Azoospermia, Irritabil... |
ORPHA:96264 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... |
OMIM:606693 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Short stature, External genital hypoplasia, Corneal opacity, Cryptorchidism, Growth del... |
ORPHA:1867 |
| Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Renal hypoplasia, Horseshoe k... |
OMIM:601186 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Cataract, Increased circulating ferritin concentration, Elevated transferrin satura... |
OMIM:606069 |
| Unilateral Ocular Duplication |
|
Median cleft lip, Abnormal pupil morphology, Cleft palate, Microcornea, Iris coloboma |
ORPHA:3374 |
| Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
| Mulibrey Nanism |
|
Hepatomegaly, Corneal dystrophy, Cardiomegaly, Myocardial fibrosis, Astigmatism, Pericardial cons... |
OMIM:253250 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Failure to thrive, Anemia |
ORPHA:28 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Type II diabetes mellitus, T... |
ORPHA:247815 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy, Fasciculations |
ORPHA:324581 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Short stature, Anorexia, Hepatosplenomegaly, Decreased mean co... |
OMIM:611590 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Cataract, Short stature, Cor... |
OMIM:601162 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy, Adrenal insufficiency, Anorexia |
OMIM:619386 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Cataract, Short stature, Cryptorchidism, Athetosis, Corneal arcus, Intrauterine growth retardatio... |
OMIM:219150 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... |
ORPHA:263479 |
| Aarskog-Scott Syndrome |
|
Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc... |
OMIM:305400 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomega... |
OMIM:256550 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic sei... |
OMIM:146200 |
| Micro Syndrome |
|
Hypoplasia of penis, Cerebellar vermis hypoplasia, Short stature, Cataract, Cryptorchidism, Hypop... |
ORPHA:2510 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Delayed epiphyseal ossific... |
ORPHA:785 |
| Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
| Hec Syndrome |
|
Abnormal pupil morphology, Vaginal hydrocele, Developmental cataract |
ORPHA:2119 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Hyperthyroidism, Short stature, Tremor, Primary a... |
ORPHA:502423 |
| Thyroid Dyshormonogenesis 1 |
|
Growth delay, Constipation, Lethargy, Hypothyroidism, Goiter |
OMIM:274400 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Hyperamylasemia, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, ... |
OMIM:604278 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Cataract, Hypogonadism, Obesity |
OMIM:601794 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cataract, Short stature, Hypergonadotropic hypogonadism, Decreased response to growth hormone sti... |
ORPHA:280679 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... |
OMIM:119500 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Ureteral agenesis, Vaginal atresia, Renal hypoplasia |
OMIM:617914 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:255120 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Diarrhea, Abnormal pyramidal sign, Limb ataxia, Par... |
OMIM:105210 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Anorexia, Spastic hemiparesis, Diarrhea, Leukocytosis, Weight loss, Leukopenia, Lethargy,... |
ORPHA:20 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... |
OMIM:612736 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Hepatomegaly, Hyperprolinemia, Cardiomegaly |
OMIM:619064 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:212140 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Brain atrophy, Bruxism, Spasti... |
OMIM:618718 |
| Biotinidase Deficiency |
|
Diffuse cerebral atrophy, Ataxia, Splenomegaly, Diarrhea, Optic atrophy, Vomiting, Conjunctivitis... |
OMIM:253260 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Short stature, Cataract, Cryptorchidism, Truncal obesity, Hyp... |
ORPHA:127 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Proteinuria, Unilateral renal agenesis, Elevated circulating creatinine concentratio... |
OMIM:137920 |
| Refsum Disease, Classic |
|
Cataract, Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Abnorma... |
OMIM:266500 |
| Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Cataract, Short stature, Bilateral cryptorchidism, Developmental cataract, Hyp... |
OMIM:616395 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Ataxia, Short stature, Postnatal growth retardation, Diarrhea, Thyroiditis, We... |
OMIM:212750 |
| Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Speech apraxia, Clonus, Poor coordination, Abnormal pyramidal sign,... |
ORPHA:415 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hemiplegia/hemiparesis, Lethargy, Transient hyperlipidemia |
ORPHA:156 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Short stature, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dyst... |
OMIM:612438 |
| Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Hypoesthesia, Diarrhea, Axonal degeneration, Vomiting |
OMIM:106100 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Dystonia, Parkinsonism, Impulsivity, Akinesia, Rigidity, Weight loss, Depression,... |
ORPHA:411602 |
| Hypercalcemia, Infantile, 1 |
|
Decreased circulating parathyroid hormone level, Weight loss, Vomiting, Lethargy, Failure to thrive |
OMIM:143880 |
| Tetraamelia Syndrome 1 |
|
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Micrognathia, Cl... |
OMIM:273395 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Nephrotic syndrome |
OMIM:269920 |
| Bone Marrow Failure Syndrome 5 |
|
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Hypogonadism, Testicula... |
OMIM:618165 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Gastroparesis, Parkinsonism, Bowel incontinence, Tremor, Rigidity, Head titubation, Ina... |
OMIM:618877 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Ataxia, Short stature, Corneal opacity, Cryptorchidism, Abnormal pyramidal sign, Spasti... |
ORPHA:2719 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Small for gestational age, Refractory si... |
OMIM:557000 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cerebellar atrophy, Glandular hypospadias, Cerebral atrophy, Lethargy, Limb hypertonia |
OMIM:620306 |
| Cushing Disease |
|
Increased urinary cortisol level, Lymphopenia, Adrenal hyperplasia, Diabetes mellitus, Paradoxica... |
ORPHA:96253 |
| Wagro Syndrome |
|
Cataract, Corneal opacity, Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Co... |
OMIM:612469 |
| Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
| Amoebiasis Due To Free-Living Amoebae |
|
Increased red blood cell count, Restlessness, Abnormal medulla oblongata morphology, Ataxia, Faci... |
ORPHA:68 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
| Multiple Synostoses Syndrome 1 |
|
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Short philtrum, L... |
OMIM:186500 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Brain atrophy, Ab... |
OMIM:619092 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Ataxia, Short stature, Acanthocytosis, Abnormal erythrocyte morphol... |
ORPHA:96180 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Generalized cerebral ... |
ORPHA:36387 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cataract, Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
| Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Short stature, Dystonia, Corneal opacity, Tremor, Splenomegaly, Uns... |
ORPHA:354 |
| Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... |
ORPHA:95717 |
| Maple Syrup Urine Disease |
|
Lethargy, Hypertonia, Vomiting, Ataxia |
OMIM:248600 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Premature ovarian insufficiency, Hypergonadotropic ... |
OMIM:212065 |
| Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Bowel incontinence, Oculogyric crisis, Rigidity, Babinski sign, Abn... |
ORPHA:306674 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Cataract, Ataxia, Babinski sign, Optic atrophy, Dysmetria, Distal sensory imp... |
OMIM:612674 |
| Woodhouse-Sakati Syndrome |
|
Decreased testicular size, Streak ovary, Hypoplasia of the fallopian tube, Decreased response to ... |
ORPHA:3464 |
| Meningococcal Meningitis |
|
Papilledema, Projectile vomiting, Anorexia, Irritability, Paresthesia, Lethargy |
ORPHA:33475 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... |
ORPHA:90796 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inab... |
OMIM:128100 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Proportionate short stature, Increased circulating free fatty acid level, Diarrhea, Fasting hyper... |
ORPHA:71212 |
| Late-Onset Familial Hypoaldosteronism |
|
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... |
ORPHA:556037 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Aganglionic megacolon |
ORPHA:2151 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Cataract, Aggressive behavior, Tremor, Cryptorchidism, Hypertonia |
OMIM:608093 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Dystonia, Hypospadias, Ataxia, Small for gestational age, Cataract, Neutropen... |
OMIM:615471 |
| Norrie Disease |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Leukocoria, Hypoplasi... |
OMIM:310600 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Decreased serum testosterone concentration, Broad-based gait, Premature... |
ORPHA:2959 |
| Estrogen Resistance |
|
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries |
OMIM:615363 |
| Early-Onset Familial Hypoaldosteronism |
|
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... |
ORPHA:556030 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Dystonia, Lethargy, Cere... |
OMIM:277410 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... |
ORPHA:1215 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Hypospadias, Sclerocornea, Precocious puberty, 2-3 toe syndactyly, Microcornea, Ectopia... |
OMIM:615877 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, B... |
OMIM:168600 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Cere... |
OMIM:300894 |
| Hyperlysinuria With Hyperammonemia |
|
Growth delay, Lethargy |
OMIM:238750 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Hyperactivity, Short stature, Broad-based gait, Cachexia, Aggressive behavio... |
ORPHA:85293 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Hypospadias, Ataxia, Short stature, Bilateral cryptorchidism, Cryptorchidism, Tremor, Gait ataxia... |
OMIM:300998 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Stillbirth, Tongue fasciculations, Myoclonus, Neonatal death, Lethargy, Cerebral cortical atrophy |
OMIM:614922 |
| Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid... |
ORPHA:93357 |
| Autosomal Recessive Spastic Paraplegia Type 5A |
|
Impaired vibratory sensation, Lower limb spasticity, Cataract, Atrophy of the spinal cord, Abnorm... |
ORPHA:100986 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Ataxia, Anisocoria, Downturned corners of mouth, Adrenal insufficiency, ... |
OMIM:615510 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, N... |
OMIM:617713 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation, Compu... |
OMIM:619405 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Chronic axonal neuropathy, Peripheral axonal neuropathy, Dystonia, Conjunctiv... |
OMIM:606002 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Neuromuscular dysphagia, Spastic dys... |
ORPHA:240094 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Incoordination, Small for gestational age, Short stature, Megaloblastic anemia, Thr... |
OMIM:277380 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... |
ORPHA:57777 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Impaired distal proprioception, Dysmetria, Gait ataxia, Progressive gait ataxia, Atrophy/Degenera... |
OMIM:607459 |
| Histiocytoid Cardiomyopathy |
|
Corneal opacity, Optic atrophy, Polycystic ovaries, Vomiting, Lethargy, Hemiplegia, Cerebellar ma... |
ORPHA:137675 |
| Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Proximal placement of thu... |
OMIM:261540 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Hepatomegaly, Extramedullary hematopoiesis, Pancytopenia, Facial palsy, Microg... |
OMIM:259720 |
| Isolated Complex I Deficiency |
|
Optic disc pallor, Diabetes mellitus, Ataxia, Optic neuropathy, Vomiting, Intrauterine growth ret... |
ORPHA:2609 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
| Usher Syndrome Type 2 |
|
Abnormality of dental color, Cataract, Ataxia, Abnormal dental enamel morphology, Carious teeth, ... |
ORPHA:231178 |
| Isovaleric Acidemia |
|
Pancytopenia, Leukopenia, Vomiting, Lethargy, Thrombocytopenia |
OMIM:243500 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... |
ORPHA:273 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Torticollis, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Congenital sensorin... |
ORPHA:45358 |
| Miller Fisher Syndrome |
|
Ataxia, Facial palsy, Mydriasis, Anisocoria, EEG with generalized slow activity |
ORPHA:98919 |
| Harrod Syndrome |
|
Cataract, Hypospadias, Cryptorchidism, Intrauterine growth retardation, Failure to thrive, Cerebr... |
ORPHA:2115 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Median cleft lip, Abnormal pinna morphology, Hypospadias, Bifid uterus, Microgn... |
OMIM:236680 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, Sutural cataract, Abnormal pyramidal sign, Lethargy, Failure to thrive |
OMIM:201470 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Hepatomegaly, External genital hypoplasia, Sensorineural hea... |
ORPHA:79330 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Dystonia, Parkinsonism, Rigidity, Depression, Bradykinesia, Gliosis, Myoclonus, G... |
OMIM:168601 |
| Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Cataract, Ataxia, Diarrhea, Babinski sign, Abnormal pyrami... |
OMIM:213700 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate... |
ORPHA:3320 |
| Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Depression, Weight loss, Bradykinesia, Inappropriate be... |
OMIM:168605 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Dystonia, Ataxia, Rhizomelia, Cataract, Tremor, Cerebral atrophy, Opisthotonu... |
OMIM:616271 |
| Neuhauser Syndrome |
|
Iridodonesis, Arachnodactyly, Ataxia, Micrognathia, Cupped ear, Genu valgum, Hypoplasia of the ir... |
OMIM:249310 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria, Deep philtrum, Abnormality of the adrenal glands |
ORPHA:289483 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Cataract, Dilated cardiomyopathy, Hypoalbuminemia |
OMIM:618805 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorchidism, 2-3 toe syndactyly, Microp... |
OMIM:618653 |
| 19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Cataract, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Growth dela... |
ORPHA:217346 |
| Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... |
ORPHA:209959 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... |
OMIM:234200 |
| Parkinson Disease 14, Autosomal Recessive |
|
Tremor, Hand tremor, Loss of ambulation, Eyelid apraxia, Parkinsonism, Depression, Clumsiness, Gl... |
OMIM:612953 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Megaloblastic anemia, Atrophy of the spinal cord, Optic atrophy, Cerebral atrophy, Growth... |
ORPHA:79282 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Dystonia, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Constipa... |
OMIM:617664 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Vomiting, Neutropenia, Lethargy, Failure to thrive, Thrombocytopenia |
OMIM:251000 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Hypospadias, Pure red cell aplasia, Short stat... |
ORPHA:124 |
| Trisomy 10P |
|
Thumb contracture, Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potenti... |
ORPHA:171929 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
OMIM:300845 |
| Norrie Disease |
|
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Uterine rupture,... |
ORPHA:649 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficu... |
ORPHA:529665 |
| Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Gastroesophageal reflu... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Gastroesophageal reflu... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Gastroesophageal reflu... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Gastroesophageal reflu... |
ORPHA:220386 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Ataxia, Irritability, Vomiting, Episodic ataxia, Lethargy, Failure to thrive |
OMIM:311250 |
| Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Cataract, Tremor, Inability to walk, Cerebellar vermis... |
OMIM:617988 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... |
OMIM:106210 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Anisocoria, Cl... |
OMIM:181270 |
| Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Diarrhea, Depres... |
ORPHA:100924 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Babinski sign, Tip-toe gait, Lethargy, Frequent... |
ORPHA:746 |
| Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence, Neu... |
OMIM:146500 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... |
OMIM:609136 |
| Alexander Disease |
|
Diabetes mellitus, Ataxia, Facial palsy, Bowel incontinence, Clonus, Precocious puberty, Tremor, ... |
ORPHA:58 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:201475 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Abnormality of the dentition, Microspherophakia, Deep anterior cham... |
OMIM:251750 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal py... |
ORPHA:240071 |
| Necrotizing Enterocolitis |
|
Small for gestational age, Diarrhea, Peritonitis, Leukocytosis, Bloody diarrhea, Vomiting, Neutro... |
ORPHA:391673 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Diabetes mellitus, Ataxia, Pancreatic fibrosis, Short stature, Postnatal grow... |
OMIM:616263 |
| Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Increased circulating free fatty acid level, Overweight, Obesity, Vomi... |
ORPHA:26793 |
| Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Tremor, Anemia, Vomiting, Neutropenia, Lethargy, Failure to thrive, Thrombocytopenia |
OMIM:251100 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Citrullinemia, Classic |
|
Ataxia, Irritability, Vomiting, Lethargy, Failure to thrive |
OMIM:215700 |
| Trichinellosis |
|
Facial palsy, Babinski sign, Hemiparesis, Irritability, Anisocoria, Conjunctivitis, Apathy, Dysph... |
ORPHA:863 |
| Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Lar... |
ORPHA:2388 |
| Mevalonic Aciduria |
|
Cerebellar atrophy, Normocytic hypoplastic anemia, Optic disc pallor, Agenesis of cerebellar verm... |
OMIM:610377 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Failure to thrive, Vomiting, Opisthotonus |
OMIM:210200 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Alpha-Mannosidosis, Adult Form |
|
Cerebellar atrophy, Optic disc pallor, Pancytopenia, Cataract, Ataxia, Corneal opacity, Hepatospl... |
ORPHA:309288 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Cataract, Hypospadias, Small for gestational age, Short stature, Postnatal growth ... |
OMIM:257300 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Increased mitochondrial number, Macrocytic anemia, Tremor, Dysmetria, Intrauterine growth retarda... |
OMIM:615578 |
| 1Q41Q42 Microdeletion Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyposegmentation of neutrophil nuclei, Submucous ... |
ORPHA:250999 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Gastrointestinal hemorrhage, Intestinal obstruction, Primary testicular failure... |
ORPHA:85450 |
| Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... |
OMIM:266810 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Mandibular prognathia, Dental crowding, Uplifted earlobe, Asplenia, Cleft hard pal... |
ORPHA:261552 |
| Superficial Siderosis |
|
Ataxia, Unsteady gait, Abnormality of the vestibulocochlear nerve, Dysmetria, Anisocoria, Abnorma... |
ORPHA:247245 |
| Hereditary Mucoepithelial Dysplasia |
|
Hematuria, Abnormal morphology of female internal genitalia, Corneal dystrophy, Cataract |
ORPHA:1839 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Cataract, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonu... |
OMIM:619780 |
| Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Ureteral duplication, Cataract, Renal insufficiency, Elevated circulating creatine ... |
OMIM:608836 |
| Cockayne Syndrome |
|
Progressive gait ataxia, Hypertonia, Gastroesophageal reflux, Gliosis, Lentiglobus, Intention tre... |
ORPHA:191 |
| Aceruloplasminemia |
|
Refractory anemia, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Akinesia, ... |
ORPHA:48818 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelp... |
ORPHA:2237 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Ataxia, Short stature, Cataract, Tre... |
OMIM:615356 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Aniridia-Absent Patella Syndrome |
|
Aniridia, Cryptorchidism, Cataract |
ORPHA:1069 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Hypertonia, Gastroeso... |
ORPHA:268261 |
| Chromosome 18Q Deletion Syndrome |
|
Broad-based gait, Hypospadias, Decreased response to growth hormone stimulation test, Failure to ... |
OMIM:601808 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Tremor, Splenomegaly, Diarrhea, Thyrotoxicosis with diffuse goiter, Increased circ... |
ORPHA:525731 |
| African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Vomiting, Conjunctivitis, Iritis, Nausea, Papil... |
ORPHA:3385 |
| Peters Plus Syndrome |
|
Micrognathia, Microcornea, Clitoral hypoplasia, Widely spaced teeth, Conductive hearing impairmen... |
ORPHA:709 |
| Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Anorexia, Aggressive behavior, Orchitis, Dysesthesia, Diarrhea, Neu... |
ORPHA:99826 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... |
OMIM:158330 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Cataract, Short stature, Ataxia, Optic atrophy, Hypogonadism |
OMIM:610651 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia |
OMIM:616881 |
| Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Uplifted earl... |
OMIM:613406 |
| Revesz Syndrome |
|
Aplastic anemia, Ataxia, Leukocoria, Bone marrow hypocellularity, Megalocornea, Oral leukoplakia |
OMIM:268130 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Growth delay, Pancytopenia, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
| Oculo-Palato-Cerebral Syndrome |
|
Cataract, High, narrow palate, Small hand, Leukocoria, Cleft palate, Short foot, Thickened helice... |
ORPHA:2714 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Increased circulating gonadotropin level, Cupped ear, Microcornea, Hypoplasia of the uterus, High... |
OMIM:110100 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... |
ORPHA:98794 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Clonus, Hypertonia, Vomiting, Tics, Compulsive behaviors, Micropenis, Juvenile cat... |
OMIM:619475 |
| Ataxia With Vitamin E Deficiency |
|
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... |
ORPHA:96 |
| Classic Phenylketonuria |
|
Cataract, Tremor, Paraplegia, Depression, Growth delay, Self-injurious behavior, Hypertonia, Atte... |
ORPHA:79254 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Sclerocornea, Cryptorchidism, Microcornea, Inferior cerebellar vermis hypoplasia, Abnor... |
ORPHA:139471 |
| Glutaric Acidemia Type 3 |
|
Lethargy, Failure to thrive, Impulsivity |
ORPHA:35706 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Femoral b... |
OMIM:201750 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Tremor, Abnormality of extrapyramidal motor function, Neutropenia, Lethargy... |
OMIM:277400 |
| Mend Syndrome |
|
Cataract, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, Asymm... |
ORPHA:401973 |
| Cowden Syndrome 1 |
|
Hyperthyroidism, Cataract, Dysplastic gangliocytoma of the cerebellum, Thyroiditis, Hydrocele tes... |
OMIM:158350 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Melena, Leukopenia, Vomiting, Dysphagia, Lethargy, Lymphop... |
ORPHA:319218 |
| Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Diabetes mellitus, Leukocytosis, Leukopenia, Addictive alcohol use, Increased circu... |
ORPHA:36238 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Cataract, Gastroparesis, Impaired distal proprioception, Abnormal c... |
ORPHA:70595 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Floating-Harbor Syndrome |
|
Speech apraxia, Restlessness, Broad-based gait, Hypospadias, Small for gestational age, Impulsivi... |
ORPHA:2044 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract, Temporal optic disc pallor |
OMIM:619649 |
| Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Low fru... |
ORPHA:646 |
| Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Argininosuccinic Aciduria |
|
Ataxia, Irritability, Vomiting, Lethargy, Failure to thrive |
OMIM:207900 |
| Usher Syndrome |
|
Cataract, Ataxia, Vestibular areflexia, Decreased fertility, Depression, Astigmatism, Aplasia/Hyp... |
ORPHA:886 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Short stature, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy |
OMIM:300578 |
| Holocarboxylase Synthetase Deficiency |
|
Irritability, Hypertonia, Vomiting, Lethargy, Thrombocytopenia |
OMIM:253270 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Dysosteosclerosis |
|
Micrognathia, Absent frontal sinuses, Oligodontia, High palate, Broad ribs, Premature loss of tee... |
OMIM:224300 |
| Evans Syndrome |
|
Lethargy, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Auto... |
ORPHA:1959 |
| Scrub Typhus |
|
Tremor, Splenomegaly, Lethargy |
ORPHA:83317 |
| Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Ataxia, Cataract, Nephrogenic diabetes insipidus, Poor coordination, Abnormali... |
OMIM:209900 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Weight loss, Abnormality of extrapyramidal motor function, Apathy |
ORPHA:178509 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Ovotestis, Cleft lip, Cleft palate, Sex reversal, Low-set ears, Adrenal gland agenesis |
OMIM:611812 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Limb dystonia, Cerebellar vermis hypoplasia, Ataxia... |
ORPHA:572798 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, Dental malocclusion, Sphero... |
OMIM:601552 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Cleft upper lip, Cleft palate, Buphthalmos, Macroglossia, Persistent pupillary membrane... |
OMIM:613150 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Leukocoria, Orofacial cleft, Displacement of the... |
ORPHA:1556 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
| Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
| Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cataract, Short stature, Optic nerve hypoplasia, Cryptorchidism, Mic... |
OMIM:610125 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Growth delay, Neutropenia, Stomatitis, Intrauterine growth retardation, Fai... |
ORPHA:79284 |
| Cowden Syndrome 6 |
|
Hyperthyroidism, Cataract, Goiter, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, ... |
OMIM:615109 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Ataxia, Short stature, Keratitis, Cryptorchidism, Optic at... |
ORPHA:910 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation,... |
ORPHA:466768 |
| Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Anemia, Vomiting, Neutropenia, Lethargy, Failure to thrive, Thrombocytopenia |
OMIM:251110 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Hypochromic microcyti... |
ORPHA:3240 |
| Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Ataxia, Short stature, Bilateral cryptorchidism, Tremor, Growth del... |
ORPHA:2754 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Cataract, Ataxia, Babinski sign, Optic atrophy, Cerebral atro... |
ORPHA:314404 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Cerebral palsy, Opisthotonus, Vomiting, Lethargy, Failure to thrive |
OMIM:210210 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Short ... |
OMIM:227650 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t... |
ORPHA:83629 |
| Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Abnormal cranial nerve morpholog... |
ORPHA:79138 |
| Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Renal cyst... |
ORPHA:488618 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... |
ORPHA:83628 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Increased circulating renin level, H... |
ORPHA:168558 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Leukopenia, Lethargy, Thrombocytopenia |
ORPHA:99828 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Ketonu... |
ORPHA:247598 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cataract, Cryptorchidism, Developmental glaucoma, Athetosis, Intrauterine growth retardation |
OMIM:614438 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... |
ORPHA:206448 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Leukocytosis, Chronic diarrhea, Hemiparesis, Gastroesophageal reflux, Vomiting, Lethargy, Failure... |
OMIM:620233 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology, Macroglossia, Megal... |
ORPHA:370959 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Increased circulating renin level, H... |
ORPHA:289548 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Hy... |
OMIM:616897 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... |
ORPHA:529799 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe... |
OMIM:618280 |
| Lysinuric Protein Intolerance |
|
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Thrombocytopenia, Di... |
ORPHA:470 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Cutis Marmorata Telangiectatica Congenita |
|
Short lower limbs, Leukocoria, Bowing of the legs |
OMIM:219250 |
| Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... |
OMIM:203780 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... |
OMIM:618056 |
| Hydranencephaly |
|
Optic nerve hypoplasia, Postnatal growth retardation, Spastic diplegia, Opisthotonus, Intrauterin... |
ORPHA:2177 |
| Biotinidase Deficiency |
|
Ataxia, Optic neuropathy, Optic atrophy, Conjunctivitis, Spastic paraparesis, Lethargy |
ORPHA:79241 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thick upper lip vermilion, Hearing impairment, Optic neuropathy, Thick low... |
OMIM:619727 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Large for gestational age, Tremor, Cerebral atrophy, Hydrocele testis, Choreo... |
OMIM:614080 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Cataract, Mitral valve prolapse, Hypocalcemia, Nephropathy |
ORPHA:1563 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy |
OMIM:618232 |
| Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, Choreoathetosis, Vo... |
ORPHA:2131 |
| Infantile Liver Failure Syndrome 2 |
|
Lethargy, Vomiting |
OMIM:616483 |
| Pseudo-Torch Syndrome 2 |
|
Lethargy, Cerebellar hypoplasia, Thrombocytopenia |
OMIM:617397 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Short stature, Involuntary movements, Cryptorchidism, Inability to walk, Unsteady ga... |
ORPHA:3063 |
| Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
| Lathosterolosis |
|
Hypoplasia of penis, Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Ch... |
ORPHA:46059 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopi... |
ORPHA:167 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... |
OMIM:274000 |
| Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Short stature, Cataract, Hypogo... |
OMIM:277700 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proxim... |
OMIM:146255 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Pseudohypoparathyroidism Type 1C |
|
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
ORPHA:79444 |
| Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Tremor, Cryptorchidism, Tip-toe gait, Attention deficit hyperactivity disorder, Dy... |
OMIM:617557 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Hyperammonemia... |
ORPHA:391428 |
| Tsh-Secreting Pituitary Adenoma |
|
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Male hypogonadi... |
ORPHA:91347 |
| Kanzaki Disease |
|
Peripheral axonal neuropathy, Axonal degeneration, Tortuosity of conjunctival vessels, Cerebral a... |
OMIM:609242 |
| Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Short metatarsal, High palate, Thickened helices, Broad ribs, Broad me... |
OMIM:608328 |
| Oculopalatocerebral Syndrome |
|
Leukocoria, Cleft palate |
OMIM:257910 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Corpus callosum atrophy, Tremor, Abnormal cerebellum morphology, Babinski sign, Impaired vibratio... |
ORPHA:447753 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Cataract, Tremor, Inability to walk, Developmental glaucoma, Optic atrophy, Vocal cord paralysis,... |
ORPHA:99956 |
| Encephalitis Lethargica |
|
Tremor, Lethargy, Parkinsonism, Bowel incontinence |
ORPHA:83600 |
| Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Protruding ear, Finger clinodactyly, High p... |
ORPHA:2751 |
| Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypo... |
OMIM:206900 |
| Pyruvate Carboxylase Deficiency |
|
Dystonia, Ataxia, Anorexia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Growth delay, Ti... |
ORPHA:3008 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Iris atrophy, Short metacarpal, Mixed hearing impairment, Cleft upper lip,... |
OMIM:201180 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Tremor, Thrombocytope... |
OMIM:214500 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, Precocious puberty, Tremor, Spastici... |
ORPHA:1934 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Familial Hypoaldosteronism |
|
Diarrhea, Growth delay, Adrenal insufficiency, Increased circulating renin level, Lethargy, Failu... |
ORPHA:427 |
| Bloom Syndrome |
|
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... |
ORPHA:125 |
| Hereditary Fructose Intolerance |
|
Cataract, Diarrhea, Growth delay, Constipation, Vomiting, Lethargy, Nausea |
ORPHA:469 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy, Vomiting |
OMIM:201450 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... |
OMIM:615530 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Reduced radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentration... |
ORPHA:90673 |
| Oculoauricular Syndrome |
|
Cataract, Short mandibular rami, Sclerocornea, Absent earlobe, Chorioretinal atrophy, Development... |
OMIM:612109 |
| Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
| Neurofibromatosis Type 1 |
|
Astrocytoma, Ataxia, Short stature, Corneal opacity, Cataract, Precocious puberty, Cryptorchidism... |
ORPHA:636 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Lethargy, Failure to thrive, Small for gestational age |
OMIM:609015 |
| Nephronophthisis 11 |
|
Anisocoria, Hepatic fibrosis, Anemia |
OMIM:613550 |
| Aicardi-Goutières Syndrome |
|
Tremor, Abnormal pyramidal sign, Hypertonia, Micropenis, Hypothyroidism, Extrapyramidal muscular ... |
ORPHA:51 |
| Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
| Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Irritability, Lethargy |
OMIM:212138 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Ataxia, Short stature, Phimosis, Cry... |
OMIM:305000 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:602782 |
| Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity... |
ORPHA:67036 |
| Legius Syndrome |
|
Hyperactivity, Cataract, Short stature, Acute monocytic leukemia, Neurofibroma, Ovarian neoplasm,... |
ORPHA:137605 |
| Knobloch Syndrome 1 |
|
Optic disc pallor, Ataxia, Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris ... |
OMIM:267750 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
| Iatrogenic Botulism |
|
Orthostatic hypotension, Mydriasis |
ORPHA:254509 |
| Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal salivary glan... |
ORPHA:2363 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Hyperlysinemia |
|
Hyperactivity, Neck hypertonia, Short stature, Poor motor coordination, Spastic tetraparesis, Tre... |
ORPHA:2203 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
| Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, ... |
OMIM:303600 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Delayed eruption of teeth, Cataract, Aganglionic megacolon, Hypospadias, Supernume... |
OMIM:235730 |
| Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Corneal opacity, Cardiomegaly |
ORPHA:349 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Cerebellar hemangioblastoma, Papillary cystadenoma of... |
OMIM:193300 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Tick-Borne Encephalitis |
|
Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Incoordinatio... |
ORPHA:297 |
| Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dystonia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypo... |
OMIM:175780 |
| Arachnoid Cyst |
|
Facial palsy, Abnormality of the endocrine system, Inability to walk, Cranial nerve compression, ... |
ORPHA:2356 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... |
ORPHA:3109 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Small for gestational age, Decreased response to growth hormone stimulation test, ... |
ORPHA:506358 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Cataract, Hypospadias, Short stature, Impulsivity, Aggressive behavior, Cryptorchi... |
ORPHA:353281 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly |
ORPHA:99931 |
| Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, High, narrow palate, Abnormal pupil morphology, Abnormality of the gi... |
ORPHA:286 |
| Cholera |
|
Irritability, Diarrhea, Vomiting, Lethargy |
ORPHA:173 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Increased density of long bones, Tibial bowing, Opisthotonus, Hypoplasia of first ... |
OMIM:269150 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... |
ORPHA:308552 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Impulsivity, Aggressive behavior, Tremor, Cryptorchidism, Pineal cyst, Ga... |
OMIM:300967 |
| Serotonin Syndrome |
|
Tremor, Abnormality of the autonomic nervous system, Mydriasis |
ORPHA:43116 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Irritability, Lethargy |
ORPHA:159 |
| Coats Disease |
|
Leukocoria |
OMIM:300216 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Irritability, Lethargy |
OMIM:229700 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... |
ORPHA:199351 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Behçet Disease |
|
Gastrointestinal hemorrhage, Cataract, Ataxia, Anorexia, Orchitis, Splenomegaly, Abnormal pyramid... |
ORPHA:117 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, ... |
ORPHA:268 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Gastroesophageal reflux, Hypothyroidism, Abnormal... |
ORPHA:1606 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papilledema, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreati... |
ORPHA:892 |
| Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
| Dpagt1-Cdg |
|
Ataxia, Akinesia, Aggressive behavior, Tremor, Abnormal cerebellum morphology, Inability to walk,... |
ORPHA:86309 |
| Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Dystonia, Bowel incontinence, Tremor, Abnormal gallbladder morphology, Ti... |
ORPHA:512 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
| Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Increased cup-to-disc ratio, Temporal optic disc p... |
ORPHA:98977 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility, Asplenia |
OMIM:618948 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Tremor, Splenomegaly, ... |
OMIM:615512 |
| Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Chronic irritative conjunctivitis, Absent nipple, Submucous cleft sof... |
ORPHA:69085 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Sclerocornea, Micrognathia, High, narrow palate, Abn... |
ORPHA:3472 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... |
OMIM:614921 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Aplasia of the ulna, Micrognathia, ... |
ORPHA:2879 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia |
OMIM:617466 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... |
OMIM:261740 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
| Progeroid Short Stature With Pigmented Nevi |
|
Premature ovarian insufficiency, Small for gestational age, Hypospadias, Short stature, Diabetes ... |
OMIM:176690 |
| Retinoblastoma |
|
Leukocoria, Pineoblastoma, Uveitis, Cleft palate, Leukemia, Hypopyon, Heterochromia iridis |
ORPHA:790 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Micrognathia, Pos... |
OMIM:619879 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Dec... |
ORPHA:572333 |
| Pierson Syndrome |
|
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... |
OMIM:609049 |
| Abetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Decreased LDL cholesterol co... |
ORPHA:14 |
| Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Cholelithiasis |
OMIM:603903 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
| Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Chiari type I malformation, Gastroesophageal reflux, Compulsive behaviors, Abnormal repetitive ma... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Chiari type I malformation, Gastroesophageal reflux, Compulsive behaviors, Abnormal repetitive ma... |
ORPHA:353277 |
| Cystinosis, Nephropathic |
|
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Short stature, Oral-pharyngeal... |
OMIM:219800 |
| Oeis Complex |
|
Hydroureter, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal... |
OMIM:258040 |
| Late-Onset Retinal Degeneration |
|
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... |
ORPHA:67042 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Abnormal pinna morphology, Absent tragus, Hypospadias, P... |
OMIM:603457 |
| Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Tremor, Wide penis, Chiari type I malforma... |
ORPHA:3455 |
| Botulism |
|
Mydriasis |
ORPHA:1267 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Iris co... |
ORPHA:2250 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyly, Long ear, Aplas... |
OMIM:276820 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Ataxia, Hypospadias, Small for gestational age, Dystonia, Tremor, T... |
OMIM:220111 |
| Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Cataract, Clonus, Tremor, Cerebral atrophy, Dysphagia, Growth delay, Hypertonia, Neutro... |
OMIM:617248 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
| Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Mandibular prognathia, Micrognathia, Long fingers, Cryptorchidism, Upper limb undergrow... |
OMIM:614527 |
| Meckel Syndrome |
|
Accessory spleen, True hermaphroditism, Pancreatic fibrosis, Cataract, Sclerocornea, Pancreatic c... |
ORPHA:564 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Episodic vomiting |
OMIM:615751 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
| Neonatal Marfan Syndrome |
|
Long toe, Iridodonesis, Arachnodactyly, Ectopia lentis, Micrognathia, Long fingers, High, narrow ... |
ORPHA:284979 |
| Coffin-Siris Syndrome 1 |
|
Conical tooth, Prominent interphalangeal joints, Gait ataxia, Short philtrum, High palate, Clinod... |
OMIM:135900 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
| Floating-Harbor Syndrome |
|
Hypospadias, Short stature, Aggressive behavior, Cryptorchidism, Glandular hypospadias, Epididyma... |
OMIM:136140 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:268800 |
| Posterior Urethral Valve |
|
Postnatal growth retardation, Lethargy |
ORPHA:93110 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly |
OMIM:617022 |
| Williams Syndrome |
|
Hypoplasia of penis, Tremor, Dysmetria, Gastroesophageal reflux, Compulsive behaviors, Megalocorn... |
ORPHA:904 |
| Retinoblastoma |
|
Cleft palate, Leukemia, Leukocoria, Pinealoma |
OMIM:180200 |
| Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Vomiting, Lethargy, Nausea, Thrombocytopenia |
ORPHA:466650 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Developmental glaucoma, Mitral valve prolapse, Atrial septal... |
OMIM:245600 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso... |
OMIM:149730 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cataract, Corneal opacity, Cardiomegaly, Heparan sulfate excretion in urine, Spleno... |
ORPHA:581 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cryptorchidism, Cardiomegaly |
OMIM:618143 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Cataract, Short stature, Bilateral cryptorchidism, Gait disturbance, Hypogonadism, Anemia |
ORPHA:3042 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly |
OMIM:619259 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Cryptorchidis... |
ORPHA:322 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Premature ... |
ORPHA:90794 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Hypertrophic cardi... |
OMIM:252500 |
| Ulbright-Hodes Syndrome |
|
Maternal diabetes, Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short metaca... |
ORPHA:3404 |
| Plague |
|
Hepatomegaly, Chapped lip, Mydriasis, Lymphadenitis, Splenomegaly, Unsteady gait, Enlarged mesent... |
ORPHA:707 |
| Collagenoma, Familial Cutaneous |
|
Iris atrophy, Sensorineural hearing impairment, Primary testicular failure |
OMIM:115250 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms, Abnormal cornea morphology, Asplenia |
OMIM:244400 |
| Aspartylglucosaminuria |
|
Cataract, Short stature, Diarrhea, Vacuolated lymphocytes, Cerebral atrophy, Neutropenia, Macroor... |
OMIM:208400 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Intrauterine growth retardation, Failure to thrive, Lethargy |
OMIM:617156 |
| Neurooculorenal Syndrome |
|
Iris atrophy, Decreased circulating cortisol level, Ectopic posterior pituitary, Mixed hearing im... |
OMIM:620305 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility |
ORPHA:244 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Cirrhosis, Familial |
|
Lethargy |
OMIM:215600 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Tortuosity of conjunctival vessels, Ol... |
OMIM:230000 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
| Scorpion Envenomation |
|
Restlessness, Hemifacial spasm, Ataxia, Tremor, Diarrhea, Hyperkinetic movements, Paresthesia, Vo... |
ORPHA:466677 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentrati... |
OMIM:619991 |
| Neu-Laxova Syndrome 1 |
|
Micrognathia, Swollen lip, Calcaneovalgus deformity, Neonatal death, Pterygium, Finger syndactyly... |
OMIM:256520 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Cardiom... |
ORPHA:116 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Cryptorchidism, Mydriasis |
OMIM:613834 |
| Pineoblastoma |
|
Papilledema, Lethargy, Pinealoma, Paralysis |
ORPHA:251909 |
| Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... |
OMIM:163950 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Chorioretinal coloboma, Triphalangeal thumb, Hypothyroidism, 2-4... |
OMIM:107480 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma, Cardiomegaly |
ORPHA:79280 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Vomiting, Lethargy, Failure to thrive, Nausea |
OMIM:229600 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
High, narrow palate, Retrognathia, Arachnodactyly, Abnormality iris morphology |
ORPHA:91387 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Sensorineural hearing impairment, Peritonitis, Mydriasis |
OMIM:619351 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... |
OMIM:300855 |
| Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Micrognathia, Cleft palate, Anotia, Microtia, Bone marrow hypocellul... |
OMIM:614083 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... |
OMIM:256040 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Sotos Syndrome |
|
Cerebellar vermis hypoplasia, Hypospadias, Astrocytoma, Cataract, Phimosis, Aggressive behavior, ... |
ORPHA:821 |
| Cystic Fibrosis |
|
Male infertility, Meconium ileus, Diarrhea, Ileus, Hepatosplenomegaly, Steatorrhea, Failure to th... |
OMIM:219700 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Missing ribs, Absent external genitalia, Rib fusion, Thin ribs, Aplasia of the vagina, Short ribs... |
OMIM:271520 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... |
ORPHA:365 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... |
OMIM:618278 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Short lingual frenulum, Supernumerary nipple, Bifid uterus, Abnormal reproductive sys... |
ORPHA:1521 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Cocaine Intoxication |
|
Tremor, Mydriasis |
ORPHA:90068 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Okamoto Syndrome |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Bifid uterus, Open bite, Splenomega... |
ORPHA:2729 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovasculariza... |
ORPHA:91500 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hip dysplasia, Aplasia of the vagina... |
ORPHA:457284 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Cholelithiasis, Annular panc... |
ORPHA:97297 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Small scrotum, Tented upper lip vermilion, Micrognathia, Camptodactyl... |
OMIM:601803 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Cryptorchidism, Cystocele, Foot acroosteolysis, Osteolytic defects of the phalanges ... |
OMIM:130050 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Eisenmenger Syndrome |
|
Brain abscess, Hypochromic microcytic anemia, Iron deficiency anemia, Increased mean corpuscular ... |
ORPHA:97214 |
| Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
| D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Corpus callosum atrophy, Splenomegaly, Primary adrenal insufficiency, Bile du... |
OMIM:261515 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Metaphyseal widening, Tibial bowing, Absent anterior chamber of the eye |
OMIM:259770 |
| Glycine Encephalopathy |
|
Lethargy |
ORPHA:407 |
| Loeys-Dietz Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Orofacial cleft, High palate, Uterine rupt... |
ORPHA:60030 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Myocardial calcif... |
ORPHA:51608 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
