Intellectual Developmental Disorder, X-Linked 110 |
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Bradykinesia |
OMIM:301095 |
Gómez-López-Hernández Syndrome |
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Abnormal brainstem morphology, Cognitive impairment, Corneal opacity, Low-set ears |
ORPHA:1532 |
Cach Syndrome |
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Cataract, Progressive neurologic deterioration, T2 hypointense thalamus, Flexion contracture, Opt... |
ORPHA:135 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Retinal detachment, Calf muscle pseudohypertrophy, Cataract, Hypoglycosylation of alpha-dystrogly... |
ORPHA:370959 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
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Abnormal brainstem MRI signal intensity, Irritability, Confusion |
ORPHA:263410 |
Ravine Syndrome |
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Decreased body weight, Abnormal auditory evoked potentials, Abnormal brainstem morphology, Atroph... |
ORPHA:99852 |
Pontocerebellar Hypoplasia Type 10 |
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Irritability, Optic atrophy, Abnormal brainstem morphology |
ORPHA:411493 |
Nphp3-Related Meckel-Like Syndrome |
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Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... |
ORPHA:3032 |
Hepatoportal Sclerosis |
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Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Opticocochleodentate Degeneration |
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Mental deterioration, Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Polymicrogyria Due To Tubb2B Mutation |
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Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dilatation, Cognitive im... |
ORPHA:300573 |
Leigh Syndrome |
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Skeletal muscle atrophy, Multiple joint contractures, Progressive neurologic deterioration, Abnor... |
ORPHA:506 |
Spinocerebellar Ataxia Type 1 |
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Skeletal muscle atrophy, Optic atrophy, Abnormal brainstem morphology, Abnormality of masticatory... |
ORPHA:98755 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
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Hepatomegaly, Vertigo, Optic atrophy, Abnormal brainstem morphology, Generalized amyotrophy, Hear... |
ORPHA:79279 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
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Decreased motor nerve conduction velocity, Hepatomegaly, Decreased sensory nerve conduction veloc... |
ORPHA:456312 |
Lennox-Gastaut Syndrome |
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Mental deterioration, Abnormal brainstem morphology |
ORPHA:2382 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
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Failure to thrive, Agenesis of corpus callosum, Abnormal brainstem morphology |
ORPHA:255182 |
Distal Deletion 10Q |
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Failure to thrive, Scapular winging, Congenital sensorineural hearing impairment, Functional abno... |
ORPHA:96148 |
Usher Syndrome Type 3 |
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Cataract, Sensorineural hearing impairment, Depression, Abnormal cochlea morphology, Astigmatism,... |
ORPHA:231183 |
Deafness-Hypogonadism Syndrome |
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Stapes ankylosis, Heterochromia iridis, Abnormality of the middle ear ossicles, Severe conductive... |
ORPHA:90646 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
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Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... |
OMIM:208085 |
Combined Oxidative Phosphorylation Defect Type 7 |
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Skeletal muscle atrophy, Abnormal brainstem MRI signal intensity, Optic atrophy, Abnormal thalami... |
ORPHA:254930 |
Citrullinemia, Type Ii, Adult-Onset |
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Confusion, Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ball... |
OMIM:603471 |
Usher Syndrome Type 1 |
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Cataract, Sensorineural hearing impairment, Depression, Abnormal cochlea morphology, Vestibular h... |
ORPHA:231169 |
Mohr-Tranebjaerg Syndrome |
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Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
20Q11.2 Microdeletion Syndrome |
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Abnormality of the ear, Brainstem dysplasia, Camptodactyly, Hearing impairment |
ORPHA:444051 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Optic disc pallor, Retinal detachment, Flexion contracture of finger, Small for gestational age, ... |
ORPHA:464311 |
Autosomal Dominant Spastic Paraplegia Type 36 |
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Urinary urgency, Abnormal brainstem MRI signal intensity, Dementia, Urinary incontinence |
ORPHA:320365 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Retinal atrophy, Retinal dystrophy, Abnormal brainstem morphology, Cognitive impairment, Elongate... |
ORPHA:370022 |
Tick-Borne Encephalitis |
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Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal medulla oblongata morphology, Fa... |
ORPHA:297 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Congenital contracture, Hypoplasia of the brainstem, Retinal dysplasia, Megalocornea, Agenesis of... |
OMIM:236670 |
Wilson Disease |
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Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hemolytic anemia, He... |
OMIM:277900 |
Tubulinopathy-Associated Dysgyria |
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Hypoplasia of the pons, Abnormal thalamus morphology, Abnormal brainstem morphology, Attention de... |
ORPHA:467166 |
Alpha-Mannosidosis, Adult Form |
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Optic disc pallor, Mixed hearing impairment, Pancytopenia, Corneal opacity, Cataract, Confusion, ... |
ORPHA:309288 |
Septopreoptic Holoprosencephaly |
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Short attention span, Abnormal midbrain morphology, Hypoplasia of the pons, Anteriorly placed anu... |
ORPHA:280195 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Urinary in... |
ORPHA:206448 |
Porphyria Cutanea Tarda |
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Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Abnormal erythrocyte en... |
ORPHA:101330 |
47,Xyy Syndrome |
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Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Abnormal brainstem morphol... |
ORPHA:8 |
Amoebiasis Due To Free-Living Amoebae |
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Myocardial necrosis, Abnormal medulla oblongata morphology, Facial palsy, Abnormal midbrain morph... |
ORPHA:68 |
Branchiootorenal Syndrome 1 |
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High palate, Vesicoureteral reflux, Conductive hearing impairment, Bifid uvula, Facial palsy, Dil... |
OMIM:113650 |
Joubert Syndrome 1 |
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Optic disc pallor, Retinal dystrophy, Brainstem dysplasia, Protruding tongue, Optic disc coloboma... |
OMIM:213300 |
Slc35A2-Cdg |
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Elevated hepatic transaminase, Failure to thrive in infancy, Limb joint contracture, Camptodactyl... |
ORPHA:356961 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
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Posteriorly rotated ears, Abnormal brainstem morphology, Low-set ears, Chorioretinal coloboma, Me... |
ORPHA:163961 |
Xq21 Microdeletion Syndrome |
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Stapes ankylosis, Abnormal chorioretinal morphology, Decreased response to growth hormone stimula... |
ORPHA:1435 |
Arima Syndrome |
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Brainstem dysplasia, Hypoplasia of the brainstem, Hepatic fibrosis, Chorioretinal coloboma, Nephr... |
OMIM:243910 |
Cochleosaccular Degeneration-Cataract Syndrome |
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Progressive sensorineural hearing impairment, Cataract, Cochlear degeneration |
ORPHA:3233 |
Deafness, Autosomal Dominant 9 |
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Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Mosaic Trisomy 9 |
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Hypoplasia of penis, Corneal opacity, Camptodactyly of finger, Intestinal malrotation, Asplenia, ... |
ORPHA:99776 |
Joubert Syndrome 2 |
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Renal insufficiency, Retinal dystrophy, Brainstem dysplasia, Optic disc coloboma, Renal cyst, Hyp... |
OMIM:608091 |
Medullary Thyroid Carcinoma |
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Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, ... |
ORPHA:1332 |
Combined Oxidative Phosphorylation Defect Type 23 |
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Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity, Cognitive impair... |
ORPHA:444013 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
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Cataract, Urinary incontinence, Sensorineural hearing impairment, Optic atrophy, Depression, Atro... |
ORPHA:314404 |
Gangliocytoma |
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Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
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Abnormal renal tubule morphology, Cataract, Abnormality of neutrophils, Hearing impairment, Ocula... |
ORPHA:2720 |
Japanese Encephalitis |
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Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Neutrophilia, Abnormal substa... |
ORPHA:79139 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
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Low-set, posteriorly rotated ears, Hypoplasia of penis, Synotia, Microglossia, Narrow internal au... |
ORPHA:990 |
Bor Syndrome |
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Ureteropelvic junction obstruction, Renal insufficiency, Multicystic kidney dysplasia, Facial pal... |
ORPHA:107 |
Meningioma |
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Urinary incontinence, Reduced circulating prolactin concentration, Neoplasm of the anterior pitui... |
ORPHA:2495 |
Joubert Syndrome 7 |
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Retinal dystrophy, Brainstem dysplasia, Stage 5 chronic kidney disease, Renal cyst, Hypoplasia of... |
OMIM:611560 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Myositis, Absent muscle fiber merosin, Facial palsy, Protruding tongue, Abnormal brainstem MRI si... |
ORPHA:258 |
Duplication Of The Pituitary Gland |
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Abnormal midbrain morphology, Abnormality of masseter muscle, Abnormal pituitary gland morphology... |
ORPHA:314621 |
Sarcoidosis |
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Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hemolytic ane... |
ORPHA:797 |
Fragile X-Associated Tremor/Ataxia Syndrome |
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Abnormal brainstem morphology, Depression, Pollakisuria, Dementia, Abnormal autonomic nervous sys... |
ORPHA:93256 |
Diaphanospondylodysostosis |
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Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cleft palate, Abnormal liver lobulation,... |
OMIM:608022 |
Alobar Holoprosencephaly |
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Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Flexion ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Flexion ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Flexion ... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
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Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Flexion ... |
ORPHA:220386 |
Norrie Disease |
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Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Aplasia/Hypoplas... |
ORPHA:649 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
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Hypoplasia of the pons, Fusion of the left and right thalami, Agenesis of corpus callosum, Midlin... |
OMIM:617542 |
Arnold-Chiari Malformation Type I |
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Functional abnormality of the inner ear, Abnormality of the musculature of the lower limbs, Urina... |
ORPHA:268882 |
Acute Disseminated Encephalomyelitis |
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Viral hepatitis, Confusion, Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal... |
ORPHA:83597 |
Full Nf2-Related Schwannomatosis |
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Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
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Hypoglycosylation of alpha-dystroglycan, Cataract, Retinal dystrophy, Abnormal brainstem morpholo... |
ORPHA:370997 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
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Conjunctival telangiectasia, Optic atrophy, Proximal amyotrophy, Cochlear degeneration, Hearing i... |
ORPHA:95433 |
Familial Acute Necrotizing Encephalopathy |
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Abnormal brainstem MRI signal intensity, Abnormal thalamus morphology, Abnormal brainstem morphol... |
ORPHA:88619 |
Alkuraya-Kucinskas Syndrome |
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Cataract, Posteriorly rotated ears, Hypoplasia of the brainstem, High palate, Kinked brainstem, L... |
OMIM:617822 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
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Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing enteropathy, Ly... |
OMIM:619991 |
Ethylmalonic Encephalopathy |
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Retinal vascular tortuosity, Abnormal brainstem MRI signal intensity, Failure to thrive, Ethylmal... |
ORPHA:51188 |
Listeriosis |
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Brain abscess, Liver abscess, Abscess, Abnormal brainstem MRI signal intensity, Jaundice, Periton... |
ORPHA:533 |
X-Linked Cerebral Adrenoleukodystrophy |
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Short attention span, Confusion, Hamstring contractures, Facial myokymia, Mental deterioration, M... |
ORPHA:139396 |
Gorham-Stout Disease |
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Lymphangioma, Torticollis, Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
Cerebellar-Facial-Dental Syndrome |
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Cataract, Foot joint contracture, Abnormal midbrain morphology, Hypoplasia of the pons, Cryptorch... |
ORPHA:444072 |
Schinzel-Giedion Syndrome |
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Renal cyst, Anteriorly placed anus, High palate, Hepatoblastoma, Micropenis, Myeloid leukemia, St... |
ORPHA:798 |
Lissencephaly 9 With Complex Brainstem Malformation |
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Hypoplasia of the pons, Enlarged tectum, Hypoplasia of the brainstem, Low-set ears |
OMIM:618325 |
Alpha-Mannosidosis, Infantile Form |
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Optic disc pallor, Mixed hearing impairment, Pancytopenia, Cataract, Corneal opacity, Recurrent u... |
ORPHA:309282 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Elevated hepatic transaminase, Abnormal midbrain morphology, Decreased response to growth hormone... |
ORPHA:293987 |
Mannosidosis, Alpha B, Lysosomal |
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Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Vacuolated lymphocytes, Macroglossi... |
OMIM:248500 |
Familial Cerebral Saccular Aneurysm |
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Abnormal brainstem morphology |
ORPHA:231160 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Failure to thrive, Cataract, Abnormal pinna morphology, Proteinuri... |
ORPHA:79318 |
Paget Disease Of Bone 2, Early-Onset |
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Hydroxyprolinuria, Brain stem compression, Bilateral conductive hearing impairment |
OMIM:602080 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
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Abnormal brainstem MRI signal intensity, Abnormal optic nerve morphology |
ORPHA:83629 |
Osteogenesis Imperfecta |
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Mixed hearing impairment, Intestinal obstruction, Small for gestational age, Corneal opacity, Fle... |
ORPHA:666 |
Achondroplasia |
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Conductive hearing impairment, Brain stem compression, Recurrent otitis media |
OMIM:100800 |