Global Variome shared LOVD

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

Phenotype #0000281499 Individual ID 00387929 Associated disease SOST1 Phenotype details Visual impairment (HP:0000505), Hearing impairment (HP:0000365), Abnormal facial shape (HP:0001999), Increased arm span (HP:0012771), Macrocephaly (HP:0000256), Delayed speech and language development (HP:0000750), Radial deviation of the hand or of fingers of the hand (HP:0009485), Camptodactyly of 2nd-5th fingers (HP:0001215), Clinodactyly (HP:0030084), Cranial hyperostosis (HP:0004437), Diagnosis/Initial sclerosteosis Inheritance Familial Diagnosis/Definite SOST1 Age/Examination 25y (25 years) Age/Diagnosis 25y Age/Onset 06y Phenotype/Onset - Protein - Owner name Alaaeldin Fayez Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Alaaeldin Fayez Date created 2021-10-31 15:52:28 +01:00 (CET) Date last edited 2021-11-01 15:34:46 +01:00 (CET)

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