Human Phenotype Ontology 
Grandparent Node:
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Neurodevelopmental abnormality (HP:0012759)help
Parent Node:
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Specific learning disability (HP:0001328)help
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Impaired visuospatial constructive cognition (HP:0010794)help
Term ID: 10794
Name: Impaired visuospatial constructive cognition
Synonym:
Definition: Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities).
Comments:
Reference: HP:0010794
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDyscalculia (HP:0002442) help
..expandDyslexia (HP:0010522) 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:0010794HP:0010794Impaired visuospatial constructive cognition0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0010794HP:0010794Impaired visuospatial constructive cognition0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0010794HP:0010794Impaired visuospatial constructive cognition0CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional75
HP:0010794HP:0010794Impaired visuospatial constructive cognition0COX1 CL E G H45127419ORPHA:550MELASHP:0040282 - Frequent
HP:0010794HP:0010794Impaired visuospatial constructive cognition0COX2 CL E G H45137421ORPHA:550MELASHP:0040282 - Frequent
HP:0010794HP:0010794Impaired visuospatial constructive cognition0COX3 CL E G H45147422ORPHA:550MELASHP:0040282 - Frequent
HP:0010794HP:0010794Impaired visuospatial constructive cognition0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040283 - Occasional60
HP:0010794HP:0010794Impaired visuospatial constructive cognition0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0010794HP:0010794Impaired visuospatial constructive cognition0GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional134
HP:0010794HP:0010794Impaired visuospatial constructive cognition0GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional57
HP:0010794HP:0010794Impaired visuospatial constructive cognition0GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional139
HP:0010794HP:0010794Impaired visuospatial constructive cognition0HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040283 - Occasional12
HP:0010794HP:0010794Impaired visuospatial constructive cognition0JRK CL E G H86296199ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional
HP:0010794HP:0010794Impaired visuospatial constructive cognition0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040282 - Frequent17
HP:0010794HP:0010794Impaired visuospatial constructive cognition0MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndromeHP:0040283 - Occasional140
HP:0010794HP:0010794Impaired visuospatial constructive cognition0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0010794HP:0010794Impaired visuospatial constructive cognition0ND1 CL E G H45357455ORPHA:550MELASHP:0040282 - Frequent
HP:0010794HP:0010794Impaired visuospatial constructive cognition0ND4 CL E G H45387459ORPHA:550MELASHP:0040282 - Frequent
HP:0010794HP:0010794Impaired visuospatial constructive cognition0ND5 CL E G H45407461ORPHA:550MELASHP:0040282 - Frequent
HP:0010794HP:0010794Impaired visuospatial constructive cognition0ND6 CL E G H45417462ORPHA:550MELASHP:0040282 - Frequent
HP:0010794HP:0010794Impaired visuospatial constructive cognition0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040283 - Occasional1952
HP:0010794HP:0010794Impaired visuospatial constructive cognition0NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathyHP:0040283 - Occasional144
HP:0010794HP:0010794Impaired visuospatial constructive cognition0PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 3HP:0040283 - Occasional7
HP:0010794HP:0010794Impaired visuospatial constructive cognition0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040283 - Occasional213
HP:0010794HP:0010794Impaired visuospatial constructive cognition0PRKAR1B CL E G H55759390ORPHA:412066PRKAR1B-related neurodegenerative dementia with intermediate filamentsHP:0040282 - Frequent2
HP:0010794HP:0010794Impaired visuospatial constructive cognition0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent4
HP:0010794HP:0010794Impaired visuospatial constructive cognition0SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional255
HP:0010794HP:0010794Impaired visuospatial constructive cognition0SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040283 - Occasional1
HP:0010794HP:0010794Impaired visuospatial constructive cognition0TRNF CL E G H45587481ORPHA:550MELASHP:0040282 - Frequent
HP:0010794HP:0010794Impaired visuospatial constructive cognition0TRNH CL E G H45647487ORPHA:550MELASHP:0040282 - Frequent
HP:0010794HP:0010794Impaired visuospatial constructive cognition0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040282 - Frequent
HP:0010794HP:0010794Impaired visuospatial constructive cognition0TRNQ CL E G H45727495ORPHA:550MELASHP:0040282 - Frequent
HP:0010794HP:0010794Impaired visuospatial constructive cognition0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040282 - Frequent
HP:0010794HP:0010794Impaired visuospatial constructive cognition0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040282 - Frequent
HP:0010794HP:0010794Impaired visuospatial constructive cognition0TRNW CL E G H45787501ORPHA:550MELASHP:0040282 - Frequent


Genes (35) :ABCD1 BPTF CACNA1H COX1 COX2 COX3 DARS2 ELN GABRA1 GABRB3 GABRG2 HTT JRK KCNC3 MAPT MLXIPL ND1 ND4 ND5 ND6 NF1 NOTCH3 PMPCA POMT1 PRKAR1B PSMD12 SLC2A1 SLC2A3 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW

Diseases (14) :ORPHA:139396 ORPHA:529962 ORPHA:64280 ORPHA:550 ORPHA:137898 OMIM:194050 ORPHA:399 ORPHA:98768 ORPHA:240085 ORPHA:363700 ORPHA:136 ORPHA:1170 ORPHA:86812 ORPHA:412066
 

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