Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000289344 Individual ID 00396178 Associated disease SSMCF Phenotype details Abnormal hair morphology, Cutis marmorata, Failure to thrive, Short stature, Microcephaly, Ulnar deviation of the hand or of fingers of the hand Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 01y Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-12-14 16:48:24 +01:00 (CET) Date last edited 2021-12-15 10:49:21 +01:00 (CET)

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