Phenotype #0000000783

Individual ID 00001613
Associated disease FLHS
Inheritance Unknown
Diagnosis/Initial -
Age/Onset -
Diagnosis/Definite -
Age/Examination 08y (8 years)
Phenotype details OFC 19y7m of 56cm/0SD; Height at 19y7m of 148cm/-3.8SD; Bone age of 3y at chronological age of 7y; Triangular face; Distinctive nose; Low-hanging columella; Wide mouth; Broad thumbs; Broad fingertips; Brachydactyly; Clinodactyly; Short middle phalanges of second and fifth fingers; Strabismus; Intellectual disability; Moderate delayed development of expressive language; Attending special school; Normal 22q11; delayed bone age; brachydactyly (HP:0000153)
Age/Diagnosis -
Birth_Details paternal age 40y; 40w; weight 2030 (-3.1)
Phenotype/Onset -
Height-Weight-OFC weight -0.7
Face/Philtrum short
Protein -
Owner name Dennis E. Bulman
Database submission license No license selected
Created by Dennis E. Bulman
Date created 2013-07-11 04:15:35 +02:00 (CEST)
Date last edited 2025-02-03 10:28:40 +01:00 (CET)

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