Severe global developmental delay

Symptom Information:

Symptom ID: HPO:0011344
Synonyms:
PSYCHOMOTOR RETARDATION, PROFOUND [HPO:0011344]
SEVERE PSYCHOMOTOR RETARDATION [HPO:0011344]
Psychomotor retardation, profound [OMIM:Psychomotor retardation, profound]
Severe psychomotor retardation [OMIM:Severe psychomotor retardation]
Global developmental delay, severe [OMIM:Global developmental delay, severe]
Profound psychomotor retardation [OMIM:Profound psychomotor retardation]
Severe psychomotor retardation (IQ 35-65) [OMIM:Severe psychomotor retardation (IQ 35-65)]
Quality:
Cross references:
OMIM: "Psychomotor retardation, profound" [OMIM:Psychomotor retardation, profound]
OMIM: "Severe psychomotor retardation" [OMIM:Severe psychomotor retardation]
OMIM: "Global developmental delay, severe" [OMIM:Global developmental delay, severe]
OMIM: "Profound psychomotor retardation" [OMIM:Profound psychomotor retardation]
OMIM: "Severe psychomotor retardation (IQ 35-65)" [OMIM:Severe psychomotor retardation (IQ 35-65)]
Is a (Direct Parents):
HPO         Global developmental delay
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)
                   Global developmental delay(HPO:0001263)
                      Severe global developmental delay(HPO:0011344)
MedDRA:
Database Frequency: 46 / 7739
Resource:

All diseases associated with this symptom:

3-methylglutaconic aciduria type 4 (Orphanet:67048)
AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
AICARDI-GOUTIERES SYNDROME 4 (OMIM:610333)
Adenylosuccinate lyase deficiency (Orphanet:46)
Adrenomyodystrophy (Orphanet:977)
Allan-Herndon-Dudley syndrome (Orphanet:59)
BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Bardet-Biedl syndrome 7 (OMIM:615984)
Cobblestone lissencephaly without muscular or ocular involvement (Orphanet:352682)
Combined oxidative phosphorylation defect type 15 (Orphanet:319524)
Congenital brain dysgenesis due to glutamine synthetase deficiency (Orphanet:71278)
Cystic leukoencephalopathy without megalencephaly (Orphanet:85136)
DPM1-CDG (Orphanet:79322)
DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Dyggve-Melchior-Clausen disease (Orphanet:239)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 (OMIM:612164)
Hurler syndrome (Orphanet:93473)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Infantile cerebellar-retinal degeneration (Orphanet:313850)
LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA (OMIM:608809)
LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEMATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS (OMIM:601170)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
Microcephalic primordial dwarfism due to ZNF335 deficiency (Orphanet:329228)
Microcephalic primordial dwarfism, Dauber type (Orphanet:319675)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mucolipidosis type 2 (Orphanet:576)
OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY (OMIM:613886)
PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
Pelizaeus-Merzbacher-like due to AIMP1 mutation (Orphanet:280293)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
Pontocerebellar hypoplasia type 2 (Orphanet:2524)
Pontocerebellar hypoplasia type 4 (Orphanet:166063)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Pyruvate dehydrogenase lipoic acid synthetase deficiency (OMIM:614462)
Qazi-Markouizos syndrome (Orphanet:3010)
Trigonocephaly - bifid nose - acral anomalies (Orphanet:3368)
Vici syndrome (Orphanet:1493)
WARBURG MICRO SYNDROME 2 (OMIM:614225)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)
Yunis-Varon syndrome (Orphanet:3472)