Human Phenotype
Ontology
Grandparent Node: Motor delay (HP:0001270) Parent Node: Delayed gross motor development (HP:0002194) ..Starting node .. Delayed ability to stand (HP:0025335)
Term ID:
25335
Name:
Delayed ability to stand
Synonym:
Definition:
A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months.
Comments:
Reference:
HP:0025335
Genes and Diseases: Child Nodes: Sister Nodes: ..Delayed ability to sit (HP:0025336) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0025335 HP:0025335 Delayed ability to stand 0 ALMS1 CL E G H 7840 428 ORPHA:64 Alström syndrome HP:0040283 - Occasional 404 HP:0025335 HP:0025335 Delayed ability to stand 0 BSND CL E G H 7809 16512 ORPHA:89938 Infantile Bartter syndrome with sensorineural deafness HP:0040282 - Frequent 53 HP:0025335 HP:0025335 Delayed ability to stand 0 CLCNKA CL E G H 1187 2026 ORPHA:89938 Infantile Bartter syndrome with sensorineural deafness HP:0040282 - Frequent 9 HP:0025335 HP:0025335 Delayed ability to stand 0 CLCNKB CL E G H 1188 2027 ORPHA:89938 Infantile Bartter syndrome with sensorineural deafness HP:0040282 - Frequent 27 HP:0025335 HP:0025335 Delayed ability to stand 0 COL12A1 CL E G H 1303 2188 ORPHA:536516 Myopathic Ehlers-Danlos syndrome HP:0040282 - Frequent 65 HP:0025335 HP:0025335 Delayed ability to stand 0 DLAT CL E G H 1737 2896 ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0040282 - Frequent 82 HP:0025335 HP:0025335 Delayed ability to stand 0 DOLK CL E G H 22845 23406 ORPHA:91131 DK1-CDG 55 HP:0025335 HP:0025335 Delayed ability to stand 0 DPM3 CL E G H 54344 3007 OMIM:618992 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15 9 HP:0025335 HP:0025335 Delayed ability to stand 0 GAA CL E G H 2548 4065 ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset HP:0040281 - Very frequent 407 HP:0025335 HP:0025335 Delayed ability to stand 0 ITPR1 CL E G H 3708 6180 OMIM:206700 Gillespie syndrome 177 HP:0025335 HP:0025335 Delayed ability to stand 0 KIDINS220 CL E G H 57498 29508 OMIM:617296 SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO 4 HP:0025335 HP:0025335 Delayed ability to stand 0 MPZ CL E G H 4359 7225 OMIM:618184 Neuropathy, congenital hypomyelinating, 2 134 HP:0025335 HP:0025335 Delayed ability to stand 0 PHEX CL E G H 5251 8918 ORPHA:89936 X-linked hypophosphatemia HP:0040282 - Frequent 217 HP:0025335 HP:0025335 Delayed ability to stand 0 SCN2A CL E G H 6326 10588 OMIM:618924 EPISODIC ATAXIA, TYPE 9; EA9 427 HP:0025335 HP:0025335 Delayed ability to stand 0 SDHB CL E G H 6390 10681 OMIM:619224 MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4 237 HP:0025335 HP:0025335 Delayed ability to stand 0 TTC5 CL E G H 91875 19274 OMIM:619244 NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD HP:0025335 HP:0025335 Delayed ability to stand 0 ZNF407 CL E G H 55628 19904 OMIM:619557 SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA 68
Genes (17) :ALMS1 BSND CLCNKA CLCNKB COL12A1 DLAT DOLK DPM3 GAA ITPR1 KIDINS220 MPZ PHEX SCN2A SDHB TTC5 ZNF407 Diseases (15) :ORPHA:64 ORPHA:89938 ORPHA:536516 ORPHA:79244 ORPHA:91131 OMIM:618992 ORPHA:308552 OMIM:206700 OMIM:617296 OMIM:618184 ORPHA:89936 OMIM:618924 OMIM:619224 OMIM:619244 OMIM:619557
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.