Global Variome shared LOVD

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

Phenotype #0000305428 Individual ID 00413455 Associated disease DRS2 Phenotype details Developmental delay, protruding forehead, hypertelorism, depressed nasal bridge, thick upper lip, mildly high palatal arch, abnormal alveolar dysplasia, curled tragus, and slightly lower ear position . Limited hip extension of both lower extremities Low weight (Z‐score − 1.49), short stature (Z‐score − 2.36). Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Juliana Mazzeu Database submission license Creative Commons Attribution 4.0 International Created by Juliana Mazzeu Date created 2022-07-18 21:00:30 +02:00 (CEST) Date last edited N/A

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