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 InternationalCreative Commons License
Created by Alaaeldin Fayez