Human Phenotype Ontology 
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Motor regression (HP:0033044)help
Term ID: 33044
Name: Motor regression
Synonym: Regression of motor skills
Definition: Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones.
Comments:
Reference: HP:0033044
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033044HP:0033044Motor regression0ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0033044HP:0033044Motor regression0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040282 - Frequent111
HP:0033044HP:0033044Motor regression0DPH5 CL E G H5161124270OMIM:620070
HP:0033044HP:0033044Motor regression0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0033044HP:0033044Motor regression0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0033044HP:0033044Motor regression0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0033044HP:0033044Motor regression0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0033044HP:0033044Motor regression0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0033044HP:0033044Motor regression0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0033044HP:0033044Motor regression0POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0033044HP:0033044Motor regression0POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0033044HP:0033044Motor regression0SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0033044HP:0033044Motor regression0TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy


Genes (13) :ADH5 CLN8 DPH5 EPRS1 GLB1 HSD17B4 NDUFA6 NFU1 NGLY1 POLR3GL POLR3K SELENOI TRAPPC6B

Diseases (13) :OMIM:619151 ORPHA:1947 OMIM:620070 OMIM:617951 OMIM:230600 OMIM:261515 OMIM:618253 OMIM:605711 OMIM:615273 OMIM:619234 OMIM:619310 OMIM:618768 OMIM:617862
 

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