Phenotype #0000000752

Individual ID 00001580
Associated disease FLHS
Inheritance Isolated (sporadic)
Diagnosis/Initial -
Age/Onset -
Diagnosis/Definite -
Age/Examination 11y (11 years)
Phenotype details bone age of 2y at chronological age of 4y8m; Bone age of 9y at chronological age of 10y8m; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion border; Wide mouth; Low-set ears; Broad thumbs; Broad fingertips; Clinodactyly; Caries; Microdontia; Cryptorchidism; Hyperopia; Conductive hearing loss; Borderline normal intellectual development; Impaired development of expressive language; Attend special school; Normal microarray findings (105K); delayed bone age; brachydactyly (HP:0000153)
Age/Diagnosis -
Birth_Details 35w; paternal age 35y; weight of 2620g (-0.5)
Phenotype/Onset -
Height-Weight-OFC height 122 (-3.1); weight -3.2; OFC 53.5 (0)
Face/Philtrum short
Protein -
Owner name Dennis E. Bulman
Database submission license No license selected
Created by Dennis E. Bulman
Date created 2013-07-07 16:54:10 +02:00 (CEST)
Date last edited 2025-02-03 10:28:40 +01:00 (CET)

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