Hyperreflexia

Symptom Information:

Symptom ID: HPO:0001347
Synonyms:
Increased deep tendon reflexes [HPO:0001347]
Increased reflexes [HPO:0001347]
Hyperreflexia (finding) [Orphanet:43360]
Hyperreflexia [Orphanet:43360]
Hyperreflexia [OMIM:Hyperreflexia]
Increased deep tendon reflexes [OMIM:Increased deep tendon reflexes]
Hypereflexia [Orphanet:43360]
Hyperreflexia [MedDRA:10020745]
Achilles tendon reflex exaggerated [MedDRA:10020745]
Exaggerated reflexes [MedDRA:10020745]
Increased reflexes [MedDRA:10020745]
Patellar tendon reflex increased [MedDRA:10020745]
Reflex positive pathological [MedDRA:10020745]
Reflexes increased [MedDRA:10020745]
Reflexes tendon increased [MedDRA:10020745]
Tendon reflex exaggerated [MedDRA:10020745]
Hyperreflexia (1 patient) [OMIM:Hyperreflexia (1 patient)]
Hyperreflexia (33%) [OMIM:Hyperreflexia (33%)]
Hyperreflexia (70%) [OMIM:Hyperreflexia (70%)]
Hyperreflexia (early) [OMIM:Hyperreflexia (early)]
Hyperreflexia (in 2 of 7 patients) [OMIM:Hyperreflexia (in 2 of 7 patients)]
Hyperreflexia (in some patients) [OMIM:Hyperreflexia (in some patients)]
Hyperreflexia (in some) [OMIM:Hyperreflexia (in some)]
Hyperreflexia (later) [OMIM:Hyperreflexia (later)]
Hyperreflexia (less common) [OMIM:Hyperreflexia (less common)]
Hyperreflexia (particularly in lower extremities, more prevalent in adolescents and adults) [OMIM:Hyperreflexia (particularly in lower extremities, more prevalent in adolescents and adults)]
Hyperreflexia (some patients) [OMIM:Hyperreflexia (some patients)]
Hyperreflexia (type I) [OMIM:Hyperreflexia (type I)]
Hyperreflexia (uncommon) [OMIM:Hyperreflexia (uncommon)]
Increased deep tendon reflexes (if left untreated) [OMIM:Increased deep tendon reflexes (if left untreated)]
Increased tendon reflex [OMIM:Increased tendon reflex]
Quality:
Cross references:
HPO:0002267 "Exaggerated startle response" [Orphanet:43360]
HPO:0007034 "Generalized hyperreflexia" [Orphanet:43360]
Orphanet:43360 "Hypereflexia" [Orphanet:43360]
OMIM: "Hyperreflexia" [OMIM:Hyperreflexia]
OMIM: "Increased deep tendon reflexes" [OMIM:Increased deep tendon reflexes]
OMIM: "Hyperreflexia (1 patient)" [OMIM:Hyperreflexia (1 patient)]
OMIM: "Hyperreflexia (33%)" [OMIM:Hyperreflexia (33%)]
OMIM: "Hyperreflexia (70%)" [OMIM:Hyperreflexia (70%)]
OMIM: "Hyperreflexia (early)" [OMIM:Hyperreflexia (early)]
OMIM: "Hyperreflexia (in 2 of 7 patients)" [OMIM:Hyperreflexia (in 2 of 7 patients)]
OMIM: "Hyperreflexia (in some patients)" [OMIM:Hyperreflexia (in some patients)]
OMIM: "Hyperreflexia (in some)" [OMIM:Hyperreflexia (in some)]
OMIM: "Hyperreflexia (later)" [OMIM:Hyperreflexia (later)]
OMIM: "Hyperreflexia (less common)" [OMIM:Hyperreflexia (less common)]
OMIM: "Hyperreflexia (particularly in lower extremities, more prevalent in adolescents and adults)" [OMIM:Hyperreflexia (particularly in lower extremities, more prevalent in adolescents and adults)]
OMIM: "Hyperreflexia (some patients)" [OMIM:Hyperreflexia (some patients)]
OMIM: "Hyperreflexia (type I)" [OMIM:Hyperreflexia (type I)]
OMIM: "Hyperreflexia (uncommon)" [OMIM:Hyperreflexia (uncommon)]
OMIM: "Increased deep tendon reflexes (if left untreated)" [OMIM:Increased deep tendon reflexes (if left untreated)]
OMIM: "Increased tendon reflex" [OMIM:Increased tendon reflex]
UMLS:C0151889 "Hyperreflexia" [HPO:0001347]
UMLS:C0151889 "Hyperreflexia" [Orphanet:43360]
Is a (Direct Parents):
MedDRA Abnormal reflexes
HPO         Abnormal pyramidal signs
Orphanet [DEL]Motor deficit/trouble
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)
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)