| Human Phenotype
Ontology
|
..Starting node
.. Persistent head lag (HP:0032988)
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| Term ID: |
32988 |
| Name: |
Persistent head lag |
| Synonym: |
Head lag; Headlag |
| Definition: |
The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes. |
| Comments: |
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| Reference: |
HP:0032988 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: | | 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:0032988 | HP:0032988 | Persistent head lag | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | CDK5 CL E G H | 1020 | 1774 | OMIM:616342 | Lissencephaly 7 with cerebellar hypoplasia | | | | 3 | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | COX10 CL E G H | 1352 | 2260 | OMIM:619046 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3 | | | | 82 | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | DLAT CL E G H | 1737 | 2896 | OMIM:245348 | Pyruvate dehydrogenase E2 deficiency | | | | 82 | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | EN1 CL E G H | 2019 | 3342 | OMIM:619218 | ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB | | | | 1 | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | | | | 1 | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | | | | 92 | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | LINS1 CL E G H | 55180 | 30922 | OMIM:614340 | Mental retardation, autosomal recessive 27 | | | | 25 | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | LYRM4 CL E G H | 57128 | 21365 | OMIM:615595 | Combined oxidative phosphorylation deficiency 19 | | | | 4 | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:618184 | Neuropathy, congenital hypomyelinating, 2 | | | | 134 | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | MYL1 CL E G H | 4632 | 7582 | OMIM:618414 | Myopathy, congenital, with fast-twitch (type ii) fiber atrophy | | | | | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | NSRP1 CL E G H | 84081 | 25305 | OMIM:620001 | | | | | | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | | | | 1 | | | | HP:0032988 | HP:0032988 | Persistent head lag | 0 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
Genes (23) :CAMK2B CDK5 COX10 DLAT EN1 FARSB GEMIN4 IFT140 LAMB2 LINS1 LYRM4 MECP2 MICOS13 MPZ MYL1 NAA20 NONO NSRP1 SLC25A12 SPTBN1 SUCLG1 TIMM50 UGP2
Diseases (23) :OMIM:617799 OMIM:616342 OMIM:619046 OMIM:245348 OMIM:619218 OMIM:613658 OMIM:617913 OMIM:266920 OMIM:609049 OMIM:614340 OMIM:615595 OMIM:300055 OMIM:618329 OMIM:618184 OMIM:618414 OMIM:619717 OMIM:300967 OMIM:620001 OMIM:612949 OMIM:619475 OMIM:245400 OMIM:617698 OMIM:618744 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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