Developmental regression

Symptom Information:

Symptom ID: HPO:0002376
Synonyms:
Loss of developmental milestones [HPO:0002376]
Mental deterioration in childhood [HPO:0002376]
Neurodevelopmental regression [HPO:0002376]
Psychomotor regression [HPO:0002376]
Psychomotor regression beginning in infancy [HPO:0002376]
Psychomotor regression in infants [HPO:0002376]
Psychomotor regression, progressive [HPO:0002376]
Intellectual decline [Orphanet:43520]
Mental deterioration [Orphanet:43520]
Developmental regression [OMIM:Developmental regression]
Loss of developmental milestones [OMIM:Loss of developmental milestones]
Mental deterioration in childhood [OMIM:Mental deterioration in childhood]
Neurodevelopmental regression [OMIM:Neurodevelopmental regression]
Psychomotor regression [OMIM:Psychomotor regression]
Psychomotor regression beginning in infancy [OMIM:Psychomotor regression beginning in infancy]
Psychomotor regression in infants [OMIM:Psychomotor regression in infants]
Psychomotor regression, progressive [OMIM:Psychomotor regression, progressive]
Psychic/psychomotor regression/dementia/intellectual decline [Orphanet:43520]
Mental impairment [MedDRA:10027374]
Cerebration impaired [MedDRA:10027374]
Deterioration mental (NOS) [MedDRA:10027374]
Difficulty thinking [MedDRA:10027374]
Intellect impaired [MedDRA:10027374]
Intelligence decreased [MedDRA:10027374]
Intelligence reduced [MedDRA:10027374]
Mental activity decreased [MedDRA:10027374]
Mental deterioration [MedDRA:10027374]
Mental dullness [MedDRA:10027374]
Mental function decreased [MedDRA:10027374]
Mental impairment NOS [MedDRA:10027374]
Mentation impaired [MedDRA:10027374]
Minimal brain dysfunction [MedDRA:10027374]
Thinking reduced [MedDRA:10027374]
Psychomotor regression (in milder cases) [OMIM:Psychomotor regression (in milder cases)]
Psychomotor regression (in some) [OMIM:Psychomotor regression (in some)]
Psychomotor regression (onset within first year of life) [OMIM:Psychomotor regression (onset within first year of life)]
Mental impairment (excl dementia and memory loss) [MedDRA:10027375]
Quality:
Cross references:
HPO:0001268 "Mental deterioration" [Orphanet:43520]
HPO:0002361 "Psychomotor deterioration" [Orphanet:43520]
Orphanet:43520 "Psychic/psychomotor regression/dementia/intellectual decline" [Orphanet:43520]
OMIM: "Developmental regression" [OMIM:Developmental regression]
OMIM: "Loss of developmental milestones" [OMIM:Loss of developmental milestones]
OMIM: "Mental deterioration in childhood" [OMIM:Mental deterioration in childhood]
OMIM: "Neurodevelopmental regression" [OMIM:Neurodevelopmental regression]
OMIM: "Psychomotor regression" [OMIM:Psychomotor regression]
OMIM: "Psychomotor regression beginning in infancy" [OMIM:Psychomotor regression beginning in infancy]
OMIM: "Psychomotor regression in infants" [OMIM:Psychomotor regression in infants]
OMIM: "Psychomotor regression, progressive" [OMIM:Psychomotor regression, progressive]
OMIM: "Psychomotor regression (in milder cases)" [OMIM:Psychomotor regression (in milder cases)]
OMIM: "Psychomotor regression (in some)" [OMIM:Psychomotor regression (in some)]
OMIM: "Psychomotor regression (onset within first year of life)" [OMIM:Psychomotor regression (onset within first year of life)]
UMLS:C0234985 "Mental deterioration" [Orphanet:43520]
Is a (Direct Parents):
HPO         Cognitive impairment
MedDRA Mental deterioration
MedDRA Mental impairment disorders
Orphanet Functional anomalies of the nervous system
Orphanet Dementia
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)
       Developmental regression(HPO:0002376)
       Mental deterioration(HPO:0001268)
          Developmental regression(HPO:0002376)
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)