Disease #04086 (SSMCF (stature, short, with microcephaly and distinctive facies), OMIM:615789)

Official abbreviation SSMCF
Name stature, short, with microcephaly and distinctive facies
OMIM ID 615789
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 2
Associated with 1 gene CRIPT
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00396178 189380 - - F yes Syria - - - - - SSMCF Abnormal hair morphology, Cutis marmorata, Failure to thrive, Short stature, Microcephaly, Ulnar deviation of the hand or of fingers of the hand CRIPT CRIPT 1 1 Andreas Laner
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