Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Neurodevelopmental abnormality (HP:0012759)help
..Starting node
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Developmental stagnation (HP:0007281)help
Term ID: 7281
Name: Developmental stagnation
Synonym: Developmental arrest
Definition: A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.
Comments:
Reference: HP:0007281
Genes and Diseases:
 
       Child Nodes:
........expandDevelopmental stagnation at onset of seizures (HP:0006834) help

 Sister Nodes: 
..expandDevelopmental regression (HP:0002376) help
..expandIntellectual disability (HP:0001249) help
..expandNeurodevelopmental delay (HP:0012758) help
..expandSpecific learning disability (HP:0001328) 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:0007281HP:0007281Developmental stagnation0ACAN CL E G H176319ORPHA:435804Short stature-advanced bone age-early-onset osteoarthritis syndromeHP:0040282 - Frequent34
HP:0007281HP:0007281Developmental stagnation0ACER3 CL E G H5533116066OMIM:617762Leukodystrophy, progressive, early childhood-onset.
HP:0007281HP:0007281Developmental stagnation0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional405
HP:0007281HP:0007281Developmental stagnation0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional5
HP:0007281HP:0007281Developmental stagnation0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II.120
HP:0007281HP:0007281Developmental stagnation0KIF5A CL E G H37986323OMIM:617235Myoclonus, intractable, neonatal.93
HP:0007281HP:0007281Developmental stagnation0MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV.78
HP:0007281HP:0007281Developmental stagnation0MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IVHP:0040281 - Very frequent78
HP:0007281HP:0007281Developmental stagnation0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional950
HP:0007281HP:0007281Developmental stagnation0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional1
HP:0007281HP:0007281Developmental stagnation0NUP62 CL E G H236368066OMIM:271930Striatonigral degeneration, infantile.7
HP:0007281HP:0007281Developmental stagnation0PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formHP:0040282 - Frequent37
HP:0007281HP:0007281Developmental stagnation0POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0007281HP:0007281Developmental stagnation0PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0007281HP:0007281Developmental stagnation0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent
HP:0007281HP:0007281Developmental stagnation0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0007281HP:0007281Developmental stagnation0SCN1B CL E G H632410586OMIM:617350Epileptic encephalopathy, early infantile, 52.126
HP:0007281HP:0007281Developmental stagnation0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional135
HP:0007281HP:0007281Developmental stagnation0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome47
HP:0007281HP:0007281Developmental stagnation0VPS11 CL E G H5582314583OMIM:616683Leukodystrophy, hypomyelinating, 121
HP:0007281HP:0007281Developmental stagnation0ZNHIT3 CL E G H932612309OMIM:260565Peho syndrome1
HP:0007281HP:0006834Developmental stagnation at onset of seizures1SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0007281HP:0006834Developmental stagnation at onset of seizures1ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47


Genes (20) :ACAN ACER3 CDKL5 GABBR2 GLB1 KIF5A MCOLN1 MECP2 NTNG1 NUP62 PHGDH POLR2A PTPN23 RARS1 SATB1 SCN1B SMC1A ST3GAL5 VPS11 ZNHIT3

Diseases (17) :ORPHA:435804 OMIM:617762 ORPHA:3095 OMIM:230600 OMIM:617235 OMIM:252650 ORPHA:578 OMIM:271930 ORPHA:79351 OMIM:618603 OMIM:618890 ORPHA:438114 OMIM:619229 OMIM:617350 OMIM:609056 OMIM:616683 OMIM:260565
 

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