Disease #06004 (MSSGM2 (Microcephaly, short stature, and impaired glucose metabolism 2), OMIM:616817)

Official abbreviation MSSGM2
Name Microcephaly, short stature, and impaired glucose metabolism 2
OMIM ID 616817
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene PPP1R15B
Associated tissues -
Disease features -
Remarks -
Date created 2021-12-10 23:20:41 +01:00 (CET)
Date last edited N/A


Individuals

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00428375 211680 - - M yes Kosovo - - - - - MSSGM2 Global developmental delay, Microcephaly, Brachycephaly, Delayed speech and language development, Motor delay, Enlarged fossa interpeduncularis, Enlarged cisterna magna, Short stature PPP1R15B PPP1R15B 1 1 Andreas Laner
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