Mullegama-Klein-Martinez Syndrome (MKMS)

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Disease Ontology 12 DOID:0111845 OMIM 56 301022 MeSH 43 D000015 D065886

MedGen 41 C5193008 CN258252 SNOMED-CT via HPO 68 111266001 162294008 17190001 18265008 1955003 203534009 204271000 204272007 224958001 22631008 229721007 237836003 249311009 249321001 253273004 263934009 271611007 29164008 32958008 35045004 36440009 367506006 394616008 396351009 406506008 432788009 53226007 59494005 60700002 62067003 62415009 63567004 64217002 7305005 7461003 87979003 90145001 95515009 more UMLS 71 CN258252

OMIM : ⁵⁶ Mullegmama-Klein-Martinez syndrome (MKMS) is an X-linked disorder characterized by global developmental delay with impaired intellectual development and poor speech. Ear abnormalities and hearing loss are common, as are dysmorphic facial features such as microcephaly and cleft palate, which suggest midline defects. Other features may include short stature, scoliosis, vertebral abnormalities, and mild limb abnormalities such as fifth finger clinodactyly. Clinical manifestations and penetrance may depend on the type of mutation and X-inactivation patterns (summary by Aoi et al., 2019). (301022)

MalaCards based summary : Mullegama-Klein-Martinez Syndrome, also known as nedxcf, is related to ocular motor apraxia and pituitary adenoma. An important gene associated with Mullegama-Klein-Martinez Syndrome is STAG2 (Stromal Antigen 2). Affiliated tissues include heart, eye and bone, and related phenotypes are attention deficit hyperactivity disorder and coarctation of aorta

Disease Ontology : ¹² A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has material basis in heterozygous or hemizygous mutation in STAG2 on chromosome Xq25.

UniProtKB/Swiss-Prot : ⁷³ Neurodevelopmental disorder, X-linked, with craniofacial abnormalities: An X-linked neurodevelopmental disorder with variable features including intellectual deficiency, microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, language delay, congenital heart defect, and clinodactyly of the 5th finger.

Clinical features from OMIM:

301022

Search Clinical Trials , NIH Clinical Center for Mullegama-Klein-Martinez Syndrome

Search GEO for disease gene expression data for Mullegama-Klein-Martinez Syndrome.