Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies

Preferred Label : Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies;

Symbol : NDMSBA;

CISMeF acronym : NDMSBA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phospholipase A2-activating protein gene (PLAA, 603873.0001);

Prefixed ID : #617527;

Details

Origin ID

617527;

UMLS CUI

C4479631;

Currated CISMeF NLP mapping
- Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) [SNOMED CT concept]
Genes related to phenotype
- Phospholipase a2-activating protein [OMIM gene]
HPO term(s)
- Abnormal cortical gyration [HPO term]
- Abnormal pyramidal sign [HPO term]
- Abnormality of extrapyramidal motor function [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bulbar palsy [HPO term]
- Bulbar signs [HPO term]
- Central hypotonia [HPO term]
- Cerebral cortical atrophy [HPO term]
- Cessation of head growth [HPO term]
- Coarse facial features [HPO term]
- Cognitive impairment [HPO term]
- Congenital hypothyroidism [HPO term]
- Congenital onset [HPO term]
- Contractures of the large joints [HPO term]
- Delayed myelination [HPO term]
- Dysphagia [HPO term]
- Edema [HPO term]
- Exaggerated startle response [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Generalized-onset seizure [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hirsutism [HPO term]
- Hypertonia [HPO term]
- Hypomimic face [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Long fingers [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Palmoplantar hyperhidrosis [HPO term]
- Pectus carinatum [HPO term]
- Poor suck [HPO term]
- Postaxial polydactyly [HPO term]
- Posteriorly rotated ears [HPO term]
- Progressive leukoencephalopathy [HPO term]
- Progressive microcephaly [HPO term]
- Respiratory insufficiency [HPO term]
- Rigidity [HPO term]
- Rocker bottom foot [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Single transverse palmar crease [HPO term]
- Smooth philtrum [HPO term]
- Tented upper lip vermilion [HPO term]
- Variable expressivity [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- PLAA-associated neurodevelopmental disorder [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) [SNOMED CT concept]

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