Hyperreflexia
Symptom Information:
Symptom ID: | HPO:0001347 | |||||||||||||||||||||||||||||||
Synonyms: |
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Quality: | ||||||||||||||||||||||||||||||||
Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the nervous system(HPO:0000707) Abnormality of nervous system physiology(HPO:0012638) Abnormality of central motor function(HPO:0011442) Abnormal pyramidal signs(HPO:0007256) Hyperreflexia(HPO:0001347) MedDRA: Nervous system disorders(MedDRA:10029205) Neurological disorders NEC(MedDRA:10029305) Abnormal reflexes(MedDRA:10000171) Hyperreflexia(HPO:0001347) |
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Database Frequency: | 363 / 7739 | |||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
14q11.2 microdeletion syndrome | (Orphanet:261120) |
17q23.1q23.2 microdeletion syndrome | (Orphanet:261279) |
3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY | (OMIM:210200) |
3-methylglutaconic aciduria type 1 | (Orphanet:67046) |
3-methylglutaconic aciduria type 3 | (Orphanet:67047) |
6-pyruvoyl-tetrahydropterin synthase deficiency | (Orphanet:13) |
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME | (OMIM:231550) |
AICARDI-GOUTIERES SYNDROME 3 | (OMIM:610329) |
ALDH18A1-related De Barsy syndrome | (Orphanet:35664) |
ALG2-CDG | (Orphanet:79326) |
ALG3-CDG | (Orphanet:79321) |
AMYOTROPHIC LATERAL SCLEROSIS 1 | (OMIM:105400) |
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE | (OMIM:614373) |
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE | (OMIM:205100) |
AMYOTROPHIC LATERAL SCLEROSIS 5 | (OMIM:602099) |
ASPARAGINE SYNTHETASE DEFICIENCY | (OMIM:615574) |
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION | (OMIM:270500) |
Adult-onset autosomal dominant leukodystrophy | (Orphanet:99027) |
Adult-onset autosomal recessive cerebellar ataxia | (Orphanet:284289) |
Adult-onset dystonia-parkinsonism | (Orphanet:199351) |
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia | (Orphanet:313808) |
Alexander disease | (Orphanet:58) |
Allan-Herndon-Dudley syndrome | (Orphanet:59) |
Alpha-N-acetylgalactosaminidase deficiency | (Orphanet:3137) |
Alpha-N-acetylgalactosaminidase deficiency type 1 | (Orphanet:79279) |
Alpha-N-acetylgalactosaminidase deficiency type 3 | (Orphanet:79281) |
Alpha-mannosidosis | (Orphanet:61) |
Amyotrophic lateral sclerosis | (Orphanet:803) |
Amyotrophic lateral sclerosis type 4 | (Orphanet:357043) |
Angelman syndrome | (Orphanet:72) |
Argininemia | (Orphanet:90) |
Aromatic L-amino acid decarboxylase deficiency | (Orphanet:35708) |
Ataxia - pancytopenia | (Orphanet:2585) |
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | (Orphanet:99947) |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | (Orphanet:363454) |
Autosomal dominant dopa-responsive dystonia | (Orphanet:98808) |
Autosomal dominant spastic ataxia 1 | (Orphanet:251282) |
Autosomal dominant spastic paraplegia type 10 | (Orphanet:100991) |
Autosomal dominant spastic paraplegia type 12 | (Orphanet:100993) |
Autosomal dominant spastic paraplegia type 13 | (Orphanet:100994) |
Autosomal dominant spastic paraplegia type 17 | (Orphanet:100998) |
Autosomal dominant spastic paraplegia type 19 | (Orphanet:100999) |
Autosomal dominant spastic paraplegia type 29 | (Orphanet:101009) |
Autosomal dominant spastic paraplegia type 3 | (Orphanet:100984) |
Autosomal dominant spastic paraplegia type 31 | (Orphanet:101011) |
Autosomal dominant spastic paraplegia type 36 | (Orphanet:320365) |
Autosomal dominant spastic paraplegia type 38 | (Orphanet:171617) |
Autosomal dominant spastic paraplegia type 4 | (Orphanet:100985) |
Autosomal dominant spastic paraplegia type 41 | (Orphanet:320355) |
Autosomal dominant spastic paraplegia type 6 | (Orphanet:100988) |
Autosomal dominant spastic paraplegia type 8 | (Orphanet:100989) |
Autosomal dominant spastic paraplegia type 9 | (Orphanet:100990) |
Autosomal recessive ataxia due to ubiquinone deficiency | (Orphanet:139485) |
Autosomal recessive cerebellar ataxia - saccadic intrusion | (Orphanet:95434) |
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome | (Orphanet:363429) |
Autosomal recessive cerebelloparenchymal disorder type 3 | (Orphanet:1170) |
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | (Orphanet:324262) |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay | (Orphanet:98) |
Autosomal recessive spastic ataxia with leukoencephalopathy | (Orphanet:314603) |
Autosomal recessive spastic paraplegia type 11 | (Orphanet:2822) |
Autosomal recessive spastic paraplegia type 14 | (Orphanet:100995) |
Autosomal recessive spastic paraplegia type 15 | (Orphanet:100996) |
Autosomal recessive spastic paraplegia type 18 | (Orphanet:209951) |
Autosomal recessive spastic paraplegia type 20 | (Orphanet:101000) |
Autosomal recessive spastic paraplegia type 21 | (Orphanet:101001) |
Autosomal recessive spastic paraplegia type 23 | (Orphanet:101003) |
Autosomal recessive spastic paraplegia type 24 | (Orphanet:101004) |
Autosomal recessive spastic paraplegia type 26 | (Orphanet:101006) |
Autosomal recessive spastic paraplegia type 28 | (Orphanet:101008) |
Autosomal recessive spastic paraplegia type 30 | (Orphanet:101010) |
Autosomal recessive spastic paraplegia type 32 | (Orphanet:171622) |
Autosomal recessive spastic paraplegia type 35 | (Orphanet:171629) |
Autosomal recessive spastic paraplegia type 39 | (Orphanet:139480) |
Autosomal recessive spastic paraplegia type 43 | (Orphanet:320370) |
Autosomal recessive spastic paraplegia type 44 | (Orphanet:320401) |
Autosomal recessive spastic paraplegia type 45 | (Orphanet:320396) |
Autosomal recessive spastic paraplegia type 46 | (Orphanet:320391) |
Autosomal recessive spastic paraplegia type 48 | (Orphanet:306511) |
Autosomal recessive spastic paraplegia type 53 | (Orphanet:319199) |
Autosomal recessive spastic paraplegia type 54 | (Orphanet:320380) |
Autosomal recessive spastic paraplegia type 55 | (Orphanet:320375) |
Autosomal recessive spastic paraplegia type 5A | (Orphanet:100986) |
Autosomal recessive spastic paraplegia type 7 | (Orphanet:99013) |
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 | (OMIM:213600) |
BROWN-VIALETTO-VAN LAERE SYNDROME 1 | (OMIM:211530) |
Behavioral variant of frontotemporal dementia | (Orphanet:275864) |
Behr syndrome | (Orphanet:1239) |
Behçet disease | (Orphanet:117) |
Bilateral frontoparietal polymicrogyria | (Orphanet:101070) |
Bilateral striopallidodentate calcinosis | (Orphanet:1980) |
Bird headed-dwarfism, Montreal type | (Orphanet:2617) |
Blepharonasofacial malformation syndrome | (Orphanet:1252) |
Brain demyelination due to methionine adenosyltransferase deficiency | (Orphanet:168598) |
CADASIL | (Orphanet:136) |
CAMOS syndrome | (Orphanet:83472) |
CARASIL | (Orphanet:199354) |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 | (OMIM:224050) |
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1 | (OMIM:603513) |
CEREBROOCULOFACIOSKELETAL SYNDROME 4 | (OMIM:610758) |
CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM | (OMIM:118301) |
Carpenter-Waziri syndrome | (Orphanet:93973) |
Central bilateral macrogyria | (Orphanet:2431) |
Central nervous system calcification - deafness - tubular acidosis - anemia | (Orphanet:3240) |
Cerebellar ataxia-deafness-narcolepsy syndrome | (Orphanet:314404) |
Cerebrotendinous xanthomatosis | (Orphanet:909) |
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | (Orphanet:284324) |
Choroideremia - hypopituitarism | (Orphanet:1434) |
Chudley-Lowry-Hoar syndrome | (Orphanet:93971) |
Classical phenylketonuria | (Orphanet:79254) |
Cobb syndrome | (Orphanet:53721) |
Cocaine embryofetopathy | (Orphanet:1911) |
Cockayne syndrome | (Orphanet:191) |
Congenital brain dysgenesis due to glutamine synthetase deficiency | (Orphanet:71278) |
Congenital ichthyosis - microcephalus - tetraplegia | (Orphanet:2271) |
Congenital intrauterine infection-like syndrome | (Orphanet:1229) |
Congenital myopathy with excess of thin filaments | (Orphanet:98904) |
Cortical blindness - intellectual deficit - polydactyly | (Orphanet:1389) |
Cystinosis | (Orphanet:213) |
D-glyceric aciduria | (Orphanet:941) |
DPAGT1-CDG | (Orphanet:86309) |
DYSTONIA WITH RINGBINDEN | (OMIM:224550) |
De Barsy syndrome | (Orphanet:2962) |
Dermatoleukodystrophy | (Orphanet:1659) |
Distal hereditary motor neuropathy type 5 | (Orphanet:139536) |
Distal myopathy with vocal cord weakness | (Orphanet:600) |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | (Orphanet:70594) |
Dysequilibrium syndrome | (Orphanet:1766) |
Dysmorphism - cleft palate - loose skin | (Orphanet:1779) |
Dysmorphism - short stature - deafness - disorder of sex development | (Orphanet:2282) |
Dystonia 16 | (Orphanet:210571) |
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY | (OMIM:615924) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 | (OMIM:613722) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 | (OMIM:614959) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 | (OMIM:616211) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 | (OMIM:613477) |
Early infantile epileptic encephalopathy | (Orphanet:1934) |
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity | (Orphanet:352654) |
Encephalopathy due to GLUT1 deficiency | (Orphanet:71277) |
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | (Orphanet:319678) |
Epileptic encephalopathy with global cerebral demyelination | (Orphanet:353217) |
Episodic ataxia type 1 | (Orphanet:37612) |
Erdheim-Chester disease | (Orphanet:35687) |
Familial dyskinesia and facial myokymia | (Orphanet:324588) |
Fanconi anemia | (Orphanet:84) |
Fetal Gaucher disease | (Orphanet:85212) |
Fucosidosis | (Orphanet:349) |
GM1 gangliosidosis | (Orphanet:354) |
GRAVES DISEASE, SUSCEPTIBILITY TO, 1 | (OMIM:275000) |
Galloway-Mowat syndrome | (Orphanet:2065) |
Gamma-aminobutyric acid transaminase deficiency | (Orphanet:2066) |
Gaucher disease type 2 | (Orphanet:77260) |
Gemignani syndrome | (Orphanet:2074) |
Gerstmann-Straussler-Scheinker syndrome | (Orphanet:356) |
Giant axonal neuropathy | (Orphanet:643) |
Glycine encephalopathy | (Orphanet:407) |
Guanidinoacetate methyltransferase deficiency | (Orphanet:382) |
Gómez-López-Hernández syndrome | (Orphanet:1532) |
HYPERREFLEXIA | (OMIM:145290) |
HYPOGLYCEMIA, LEUCINE-INDUCED | (OMIM:240800) |
Hartnup syndrome | (Orphanet:2116) |
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 | (Orphanet:137681) |
Hereditary continuous muscle fiber activity | (Orphanet:972) |
Hereditary folate malabsorption | (Orphanet:90045) |
Hereditary hyperekplexia | (Orphanet:3197) |
Hereditary sensory and autonomic neuropathy with spastic paraplegia | (Orphanet:139578) |
Holmes-Gang syndrome | (Orphanet:93970) |
Huntington disease | (Orphanet:399) |
Huntington disease-like 2 | (Orphanet:98934) |
Hyperornithinemia-hyperammonemia-homocitrullinuria | (Orphanet:415) |
Hypomyelination - congenital cataract | (Orphanet:85163) |
Hypomyelination with brain stem and spinal cord involvement and leg spasticity | (Orphanet:363412) |
Hypotonia-speech impairment-severe cognitive delay syndrome | (Orphanet:371364) |
Infantile choroido cerebral calcification syndrome | (Orphanet:1313) |
Infantile epileptic-dyskinetic encephalopathy | (Orphanet:364063) |
Infantile neuroaxonal dystrophy | (Orphanet:35069) |
Infantile-onset ascending hereditary spastic paralysis | (Orphanet:293168) |
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia | (Orphanet:284332) |
Inherited congenital spastic tetraplegia | (Orphanet:210141) |
Intellectual deficit - spasticity - ectrodactyly | (Orphanet:1891) |
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures | (Orphanet:1568) |
Intellectual deficit, X-linked - psychosis - macroorchidism | (Orphanet:3077) |
Intellectual deficit, X-linked, Brooks type | (Orphanet:3056) |
Isolated 3-methylcrotonyl-CoA carboxylase deficiency | (Orphanet:6) |
Isolated CoQ-cytochrome C reductase deficiency | (Orphanet:1460) |
Isolated NADH-CoQ reductase deficiency | (Orphanet:2609) |
Isolated succinate-CoQ reductase deficiency | (Orphanet:3208) |
Joubert syndrome with hepatic defect | (Orphanet:1454) |
Juberg-Marsidi syndrome | (Orphanet:93972) |
Juvenile Huntington disease | (Orphanet:248111) |
Juvenile amyotrophic lateral sclerosis | (Orphanet:300605) |
Juvenile primary lateral sclerosis | (Orphanet:247604) |
KEPPEN-LUBINSKY SYNDROME | (OMIM:614098) |
Kenny-Caffey syndrome | (Orphanet:2333) |
Kufor-Rakeb syndrome | (Orphanet:306674) |
L1 syndrome | (Orphanet:275543) |
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/ORHYPOGONADOTROPIC HYPOGONADISM | (OMIM:614381) |
LEUKODYSTROPHY, HYPOMYELINATING, 9 | (OMIM:616140) |
LISSENCEPHALY 6 WITH MICROCEPHALY | (OMIM:616212) |
Laryngeal abductor paralysis - intellectual deficit | (Orphanet:2375) |
Leber plus disease | (Orphanet:99718) |
Leigh syndrome | (Orphanet:506) |
Lesch-Nyhan syndrome | (Orphanet:510) |
Lethal ataxia with deafness and optic atrophy | (Orphanet:1187) |
Leukoencephalopathy - ataxia - hypodontia - hypomyelination | (Orphanet:137639) |
Leukoencephalopathy - metaphyseal chondrodysplasia | (Orphanet:83629) |
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation | (Orphanet:137898) |
Linear nevus sebaceus syndrome | (Orphanet:2612) |
MASA syndrome | (Orphanet:2466) |
MEHMO syndrome | (Orphanet:85282) |
MELAS | (Orphanet:550) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 | (OMIM:614255) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 | (OMIM:614340) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 | (OMIM:615599) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 | (OMIM:611091) |
METACHROMATIC LEUKODYSTROPHY | (OMIM:250100) |
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY | (OMIM:249900) |
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICALMALFORMATIONS | (OMIM:604317) |
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY | (OMIM:613668) |
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY | (OMIM:615760) |
MICROHYDRANENCEPHALY | (OMIM:605013) |
MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4 | (OMIM:607501) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 | (OMIM:615157) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 | (OMIM:615159) |
MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C | (OMIM:615501) |
Macrocephaly - spastic paraplegia - dysmorphism | (Orphanet:2429) |
Malignant migrating partial seizures of infancy | (Orphanet:293181) |
Maternal hyperphenylalaninemia | (Orphanet:2209) |
Maternally-inherited cardiomyopathy and hearing loss | (Orphanet:1349) |
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus | (Orphanet:83473) |
Metachromatic leukodystrophy | (Orphanet:512) |
Micro syndrome | (Orphanet:2510) |
Microcephaly - cervical spine fusion anomalies | (Orphanet:2522) |
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome | (Orphanet:329332) |
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | (Orphanet:279934) |
Mohr-Tranebjaerg syndrome | (Orphanet:52368) |
Mucolipidosis type 4 | (Orphanet:578) |
Multiple congenital anomalies - hypotonia - seizures syndrome | (Orphanet:280633) |
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 | (Orphanet:300496) |
Multiple system atrophy | (Orphanet:102) |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A | (OMIM:256600) |
NEUROPATHY, HEREDITARY SENSORY, TYPE ID | (OMIM:613708) |
Nemaline myopathy | (Orphanet:607) |
Neonatal adrenoleukodystrophy | (Orphanet:44) |
Neurodegeneration with brain iron accumulation due to C19orf12 mutation | (Orphanet:289560) |
Neuroferritinopathy | (Orphanet:157846) |
Neuronal intranuclear inclusion disease | (Orphanet:2289) |
Norrie disease | (Orphanet:649) |
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE | (OMIM:602475) |
Oculo-reno-cerebellar syndrome | (Orphanet:2715) |
Oculocerebral hypopigmentation syndrome, Cross type | (Orphanet:2719) |
Oculodentodigital dysplasia | (Orphanet:2710) |
Odontoleukodystrophy | (Orphanet:77295) |
Olivopontocerebellar atrophy - deafness | (Orphanet:2732) |
Otofaciocervical syndrome | (Orphanet:2792) |
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET | (OMIM:260300) |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | (OMIM:600116) |
PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET | (OMIM:605909) |
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATIONSYNDROME | (OMIM:606721) |
PEHO syndrome | (Orphanet:2836) |
PEHO-like syndrome | (Orphanet:99807) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 | (OMIM:615803) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A | (OMIM:607596) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B | (OMIM:614678) |
Pantothenate kinase-associated neurodegeneration | (Orphanet:157850) |
Paraplegia - brachydactyly - cone-shaped epiphysis | (Orphanet:2823) |
Paraplegia - intellectual deficit - hyperkeratosis | (Orphanet:2824) |
Parkinsonim due to ATP13A2 deficiency | (Orphanet:314632) |
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity | (Orphanet:53583) |
Pelizaeus-Merzbacher-like due to HSPD1 mutation | (Orphanet:280288) |
Peroxisomal acyl-CoA oxidase deficiency | (Orphanet:2971) |
Phenylketonuria | (Orphanet:716) |
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract | (Orphanet:171848) |
Pontine tegmental cap dysplasia | (Orphanet:269229) |
Pontocerebellar hypoplasia type 1 | (Orphanet:2254) |
Pontocerebellar hypoplasia type 3 | (Orphanet:97249) |
Pontocerebellar hypoplasia type 6 | (Orphanet:166073) |
Pontocerebellar hypoplasia type 7 | (Orphanet:284339) |
Pontocerebellar hypoplasia type 8 | (Orphanet:324569) |
Pontocerebellar hypoplasia, type 9 | (OMIM:615809) |
Porencephaly-microcephaly-bilateral congenital cataract syndrome | (Orphanet:306547) |
Postaxial polydactyly - dental and vertebral anomalies | (Orphanet:2916) |
Premature chromosome condensation with microcephaly and intellectual deficit | (Orphanet:52183) |
Primary lateral sclerosis | (Orphanet:35689) |
Pyruvate dehydrogenase E2 deficiency | (Orphanet:79244) |
Pyruvate dehydrogenase deficiency | (Orphanet:765) |
RFT1-CDG | (Orphanet:244310) |
Renal tubulopathy - encephalopathy - liver failure | (Orphanet:254902) |
Renier-Gabreels-Jasper syndrome | (Orphanet:93975) |
Renpenning syndrome | (Orphanet:3242) |
Retinitis pigmentosa | (Orphanet:791) |
Richards-Rundle syndrome | (Orphanet:1399) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
SOTOS SYNDROME 1 | (OMIM:117550) |
SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE | (OMIM:611302) |
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE | (OMIM:614066) |
SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE | (OMIM:612936) |
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE | (OMIM:613744) |
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE | (OMIM:614067) |
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE | (OMIM:615658) |
SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE | (OMIM:615625) |
SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT | (OMIM:616282) |
SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION | (OMIM:607565) |
SPINOCEREBELLAR ATAXIA 40 | (OMIM:616053) |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 | (OMIM:615705) |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 | (OMIM:616204) |
Sandhoff disease | (Orphanet:796) |
Sandhoff disease, adult form | (Orphanet:309169) |
Sandhoff disease, infantile form | (Orphanet:309155) |
Sandhoff disease, juvenile form | (Orphanet:309162) |
Severe intellectual deficit and progressive spastic paraplegia | (Orphanet:280763) |
Severe neonatal-onset encephalopathy with microcephaly | (Orphanet:209370) |
Sialidosis type 1 | (Orphanet:812) |
Smith-Fineman-Myers syndrome | (Orphanet:93974) |
Sneddon syndrome | (Orphanet:820) |
Sotos syndrome | (Orphanet:821) |
Spastic ataxia with congenital miosis | (Orphanet:1182) |
Spastic diplegia, infantile type | (Orphanet:1680) |
Spastic paraparesis - deafness | (Orphanet:2815) |
Spastic paraplegia - facial-cutaneous lesions | (Orphanet:2819) |
Spastic paraplegia - nephritis - deafness | (Orphanet:2820) |
Spastic paraplegia - neuropathy - poikiloderma | (Orphanet:2821) |
Spastic paraplegia - precocious puberty | (Orphanet:2826) |
Spastic paraplegia 33, autosomal dominant | (OMIM:610244) |
Spastic paraplegia 63, autosomal recessive | (OMIM:615686) |
Spastic paraplegia type 2 | (Orphanet:99015) |
Spasticity - intellectual deficit - X-linked epilepsy | (Orphanet:3175) |
Spectrin-associated autosomal recessive cerebellar ataxia | (Orphanet:352403) |
Spinocerebellar ataxia type 1 | (Orphanet:98755) |
Spinocerebellar ataxia type 10 | (Orphanet:98761) |
Spinocerebellar ataxia type 11 | (Orphanet:98767) |
Spinocerebellar ataxia type 12 | (Orphanet:98762) |
Spinocerebellar ataxia type 13 | (Orphanet:98768) |
Spinocerebellar ataxia type 14 | (Orphanet:98763) |
Spinocerebellar ataxia type 15/16 | (Orphanet:98769) |
Spinocerebellar ataxia type 19/22 | (Orphanet:98772) |
Spinocerebellar ataxia type 23 | (Orphanet:101108) |
Spinocerebellar ataxia type 35 | (Orphanet:276193) |
Spinocerebellar ataxia type 36 | (Orphanet:276198) |
Spinocerebellar ataxia type 5 | (Orphanet:98766) |
Spinocerebellar ataxia type 7 | (Orphanet:94147) |
Sporadic Leigh syndrome | (Orphanet:255199) |
Stiff person syndrome | (Orphanet:3198) |
Sturge-Weber syndrome | (Orphanet:3205) |
Syndromic X-linked intellectual deficit due to JARID1C mutation | (Orphanet:85279) |
Tay-Sachs disease | (Orphanet:845) |
Toluene embryopathy | (Orphanet:1920) |
Triple A syndrome | (Orphanet:869) |
Typhoid | (Orphanet:99745) |
WARBURG MICRO SYNDROME 1 | (OMIM:600118) |
White matter hypoplasia - corpus callosum agenesis - intellectual deficit | (Orphanet:3207) |
Williams syndrome | (Orphanet:904) |
Worster-Drought syndrome | (Orphanet:3465) |
X-linked immunoneurologic disorder | (Orphanet:2571) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome | (Orphanet:85295) |
X-linked lissencephaly with abnormal genitalia | (Orphanet:452) |
X-linked parkinsonism-spasticity syndrome | (Orphanet:363654) |
X-linked sideroblastic anemia - ataxia | (Orphanet:2802) |
X-linked spastic paraplegia type 16 | (Orphanet:100997) |
X-linked spastic paraplegia type 34 | (Orphanet:171607) |
Xeroderma pigmentosum complementation group B | (Orphanet:276252) |
[DEL] SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE | (OMIM:607259) |