Human Phenotype Ontology 
Grandparent Node:
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Neurodevelopmental abnormality (HP:0012759)help
Parent Node:
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Intellectual disability (HP:0001249)help
..Starting node
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Intellectual disability, progressive (HP:0006887)help
Term ID: 6887
Name: Intellectual disability, progressive
Synonym: Intellectual disability, progressive; Mental retardation, progressive; Progressive mental retardation
Definition: The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.
Comments:
Reference: HP:0006887
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandIntellectual disability, borderline (HP:0006889) help
..expandIntellectual disability, mild (HP:0001256) help
..expandIntellectual disability, moderate (HP:0002342) help
..expandIntellectual disability, profound (HP:0002187) help
..expandIntellectual disability, severe (HP:0010864) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006887HP:0006887Intellectual disability, progressive0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0006887HP:0006887Intellectual disability, progressive0AHSG CL E G H197349OMIM:203650Alopecia-Mental retardation syndrome 1.5
HP:0006887HP:0006887Intellectual disability, progressive0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0006887HP:0006887Intellectual disability, progressive0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0006887HP:0006887Intellectual disability, progressive0ARHGEF9 CL E G H2322914561OMIM:300607Epileptic encephalopathy, early infantile, 8.45
HP:0006887HP:0006887Intellectual disability, progressive0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0006887HP:0006887Intellectual disability, progressive0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0006887HP:0006887Intellectual disability, progressive0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0006887HP:0006887Intellectual disability, progressive0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10.159
HP:0006887HP:0006887Intellectual disability, progressive0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent30
HP:0006887HP:0006887Intellectual disability, progressive0DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1.152
HP:0006887HP:0006887Intellectual disability, progressive0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent106
HP:0006887HP:0006887Intellectual disability, progressive0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent54
HP:0006887HP:0006887Intellectual disability, progressive0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent158
HP:0006887HP:0006887Intellectual disability, progressive0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent83
HP:0006887HP:0006887Intellectual disability, progressive0GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B.86
HP:0006887HP:0006887Intellectual disability, progressive0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0006887HP:0006887Intellectual disability, progressive0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1HP:0040283 - Occasional13
HP:0006887HP:0006887Intellectual disability, progressive0L2HGDH CL E G H7994420499OMIM:236792L-2-Hydroxyglutaric aciduria.34
HP:0006887HP:0006887Intellectual disability, progressive0L2HGDH CL E G H7994420499ORPHA:79314L-2-hydroxyglutaric aciduriaHP:0040281 - Very frequent34
HP:0006887HP:0006887Intellectual disability, progressive0MECP2 CL E G H42046990OMIM:300673Encephalopathy, neonatal severe, due to mecp2 mutations.950
HP:0006887HP:0006887Intellectual disability, progressive0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0006887HP:0006887Intellectual disability, progressive0MTRR CL E G H45527473OMIM:236270Homocystinuria-megaloblastic anemia, cbl E type.88
HP:0006887HP:0006887Intellectual disability, progressive0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0006887HP:0006887Intellectual disability, progressive0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040282 - Frequent39
HP:0006887HP:0006887Intellectual disability, progressive0NDP CL E G H46937678OMIM:310600Norrie disease.39
HP:0006887HP:0006887Intellectual disability, progressive0NKX2-5 CL E G H14822488OMIM:225250Hypothyroidism, congenital, nongoitrous, 5.90
HP:0006887HP:0006887Intellectual disability, progressive0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0006887HP:0006887Intellectual disability, progressive0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0006887HP:0006887Intellectual disability, progressive0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0006887HP:0006887Intellectual disability, progressive0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1.135
HP:0006887HP:0006887Intellectual disability, progressive0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0006887HP:0006887Intellectual disability, progressive0SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc.71
HP:0006887HP:0006887Intellectual disability, progressive0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type.93
HP:0006887HP:0006887Intellectual disability, progressive0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome.94
HP:0006887HP:0006887Intellectual disability, progressive0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0006887HP:0006887Intellectual disability, progressive0SRD5A3 CL E G H7964425812OMIM:612713Kahrizi syndrome.80
HP:0006887HP:0006887Intellectual disability, progressive0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0006887HP:0006887Intellectual disability, progressive0SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaHP:0040281 - Very frequent66
HP:0006887HP:0006887Intellectual disability, progressive0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0006887HP:0006887Intellectual disability, progressive0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0006887HP:0006887Intellectual disability, progressive0TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type.
HP:0006887HP:0006887Intellectual disability, progressive0TSHB CL E G H725212372OMIM:275100Hypothyroidism, congenital, nongoitrous, 4.9
HP:0006887HP:0006887Intellectual disability, progressive0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0006887HP:0006887Intellectual disability, progressive0WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2.27
HP:0006887HP:0006887Intellectual disability, progressive0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent34
HP:0006887HP:0006887Intellectual disability, progressive0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent86


Genes (44) :ACOX1 AHSG AIFM1 AP4M1 ARHGEF9 ARX ATRX B3GLCT CTSD DDB2 DMPK ERCC2 ERCC3 ERCC4 ERCC5 GCH1 KAT6B KCNH1 L2HGDH MECP2 MGAT2 MTRR NDE1 NDP NKX2-5 OFD1 PEX1 PTS RAB3GAP2 SLC16A2 SLC35C1 SLC9A6 SNAP29 SNRPN SRD5A3 SUCLA2 TCF4 TK2 TONSL TSHB UBE3A WDR81 XPA XPC

Diseases (40) :OMIM:264470 OMIM:203650 OMIM:300232 OMIM:612936 OMIM:300607 OMIM:300004 OMIM:309580 OMIM:261540 OMIM:610127 ORPHA:910 OMIM:160900 OMIM:233910 OMIM:606170 OMIM:135500 OMIM:236792 ORPHA:79314 OMIM:300673 OMIM:212066 OMIM:236270 OMIM:605013 ORPHA:649 OMIM:310600 OMIM:225250 OMIM:300209 OMIM:214100 OMIM:261640 OMIM:212720 OMIM:300523 OMIM:266265 OMIM:300243 OMIM:609528 OMIM:105830 OMIM:612713 OMIM:612073 ORPHA:1933 OMIM:610954 OMIM:609560 OMIM:271510 OMIM:275100 OMIM:610185
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.