Mullegama-klein-martinez syndrome

Preferred Label : Mullegama-klein-martinez syndrome;

Symbol : MKMS;

CISMeF acronym : NEDXCF; MKMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NEDXCF; Neurodevelopmental disorder, X-linked, with craniofacial abnormalities;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the stromal antigen 2 gene (STAG2, 300826.0001);

Prefixed ID : #301022;

Details

Origin ID

301022;

UMLS CUI

C5193008;

Automatic exact mappings (from CISMeF team)
- Mullegama-Klein-Martinez syndrome [DO Concept]
DO Cross reference
- Mullegama-Klein-Martinez syndrome [DO Concept]
Genes related to phenotype
- Stromal antigen 2 [OMIM gene]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Abnormal facial shape [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Bulbous nose [HPO term]
- Cleft lip [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coarctation of aorta [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Curly eyelashes [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Failure to thrive [HPO term]
- Frontal bossing [HPO term]
- Full cheeks [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High anterior hairline [HPO term]
- Hypoplastic left heart [HPO term]
- Long philtrum [HPO term]
- Low anterior hairline [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Pes planus [HPO term]
- Polydactyly [HPO term]
- Preauricular pit [HPO term]
- Preauricular skin tag [HPO term]
- Prominent nose [HPO term]
- Proptosis [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Sloping forehead [HPO term]
- Smooth philtrum [HPO term]
- Thin upper lip vermilion [HPO term]
- Triangular face [HPO term]
- Unsteady gait [HPO term]
- Wide nasal bridge [HPO term]
- X-linked inheritance [HPO term]
See also inter- (CISMeF)
- STAG2 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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