Developmental regression
Symptom Information:
Symptom ID: | HPO:0002376 | |||||||||||||||||||||||||||||||||||||
Synonyms: |
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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 higher mental function(HPO:0011446) Cognitive impairment(HPO:0100543) Developmental regression(HPO:0002376) MedDRA: Nervous system disorders(MedDRA:10029205) Mental impairment disorders(MedDRA:10057167) Mental deterioration(HPO:0001268) Developmental regression(HPO:0002376) Developmental regression(HPO:0002376) |
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Database Frequency: | 74 / 7739 | |||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
15q24 microdeletion syndrome | (Orphanet:94065) |
3-@METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT,AND NEUTROPENIA | (OMIM:616271) |
AICARDI-GOUTIERES SYNDROME 6 | (OMIM:615010) |
AICARDI-GOUTIERES SYNDROME 7 | (OMIM:615846) |
Aceruloplasminemia | (Orphanet:48818) |
Alexander disease | (Orphanet:58) |
Alpers syndrome | (Orphanet:726) |
Alpha-N-acetylgalactosaminidase deficiency | (Orphanet:3137) |
Alpha-N-acetylgalactosaminidase deficiency type 1 | (Orphanet:79279) |
Alpha-N-acetylgalactosaminidase deficiency type 3 | (Orphanet:79281) |
Amelo-cerebro-hypohidrotic syndrome | (Orphanet:1946) |
Amish infantile epilepsy syndrome | (Orphanet:171714) |
Aspartylglucosaminuria | (Orphanet:93) |
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy | (Orphanet:1192) |
Atypical Rett syndrome | (Orphanet:3095) |
CACH syndrome | (Orphanet:135) |
CADASIL | (Orphanet:136) |
CLN5 disease | (Orphanet:228360) |
CLN8 disease | (Orphanet:228354) |
Canavan disease | (Orphanet:141) |
Cerebroretinal vasculopathy | (Orphanet:3421) |
Combined oxidative phosphorylation defect type 4 | (Orphanet:254925) |
Combined oxidative phosphorylation defect type 7 | (Orphanet:254930) |
Craniofacial dysplasia-osteopenia syndrome | (Orphanet:314555) |
Dyschromatosis symmetrica hereditaria | (Orphanet:41) |
Dysosteosclerosis | (Orphanet:1782) |
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY | (OMIM:615924) |
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET | (OMIM:615369) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 | (OMIM:614558) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 | (OMIM:614959) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 | (OMIM:612164) |
Ethylmalonic encephalopathy | (Orphanet:51188) |
Fetal Gaucher disease | (Orphanet:85212) |
Gaucher disease type 2 | (Orphanet:77260) |
HERNS syndrome | (Orphanet:63261) |
Hereditary vascular retinopathy | (Orphanet:71291) |
Huntington disease | (Orphanet:399) |
Infantile neuroaxonal dystrophy | (Orphanet:35069) |
Intellectual deficit, X-linked, Brooks type | (Orphanet:3056) |
Isolated NADH-CoQ reductase deficiency | (Orphanet:2609) |
Isolated succinate-CoQ reductase deficiency | (Orphanet:3208) |
KRABBE DISEASE | (OMIM:245200) |
Krabbe disease | (Orphanet:487) |
L-2-hydroxyglutaric aciduria | (Orphanet:79314) |
Late infantile neuronal ceroid lipofuscinosis | (Orphanet:168491) |
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate | (Orphanet:314051) |
MEGDEL syndrome | (Orphanet:352328) |
MELAS | (Orphanet:550) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | (OMIM:612621) |
MERRF | (Orphanet:551) |
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY | (OMIM:249900) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 | (OMIM:615838) |
Maternally-inherited Leigh syndrome | (Orphanet:255210) |
Menkes disease | (Orphanet:565) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Mucopolysaccharidosis type 2 | (Orphanet:580) |
Mucopolysaccharidosis type 2, severe form | (Orphanet:217085) |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A | (OMIM:256600) |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 | (OMIM:615643) |
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | (Orphanet:88639) |
Neurodegenerative syndrome due to cerebral folate transport deficiency | (Orphanet:217382) |
Niemann-Pick disease type C | (Orphanet:646) |
Peroxisomal acyl-CoA oxidase deficiency | (Orphanet:2971) |
Progressive myoclonic epilepsy with dystonia | (Orphanet:352596) |
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia | (Orphanet:3390) |
Retinal vasculopathy and cerebral leukodystrophy | (Orphanet:247691) |
Rett syndrome | (Orphanet:778) |
Ribose 5-phosphate isomerase deficiency | (OMIM:608611) |
STRIATONIGRAL DEGENERATION, INFANTILE | (OMIM:271930) |
Severe X-linked mitochondrial encephalomyopathy | (Orphanet:238329) |
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency | (Orphanet:35123) |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | (Orphanet:314394) |
Wolfram syndrome | (Orphanet:3463) |
Zellweger-like syndrome without peroxisomal anomalies | (Orphanet:50812) |