MKMS
MCID: MLL023
MIFTS: 29
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Mullegama-Klein-Martinez Syndrome (MKMS)
Categories:
Ear diseases, Genetic diseases, Mental diseases, Neuronal diseases
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MalaCards integrated aliases for Mullegama-Klein-Martinez Syndrome:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
variable phenotype manifestations may differ between female and male patients
Inheritance:
x-linked HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Anatomical: Mental diseases Neuronal diseases Ear diseases |
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.
MalaCards based summary : Mullegama-Klein-Martinez Syndrome, also known as nedxcf, is related to microphthalmia, syndromic 10. An important gene associated with Mullegama-Klein-Martinez Syndrome is STAG2 (Stromal Antigen 2). Affiliated tissues include heart, and related phenotypes are attention deficit hyperactivity disorder and coarctation of aorta UniProtKB/Swiss-Prot : 73 Mullegama-Klein-Martinez syndrome: 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.
More information from OMIM:
301022
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Diseases related to Mullegama-Klein-Martinez Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Mullegama-Klein-Martinez Syndrome:31 (show all 41)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:301022 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Mullegama-Klein-Martinez Syndrome:40
Heart
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Articles related to Mullegama-Klein-Martinez Syndrome:
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ClinVar genetic disease variations for Mullegama-Klein-Martinez Syndrome:6
UniProtKB/Swiss-Prot genetic disease variations for Mullegama-Klein-Martinez Syndrome:73
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Search
GEO
for disease gene expression data for Mullegama-Klein-Martinez Syndrome.
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