Phenotype #0000000750

Individual ID 00001578
Associated disease FLHS
Inheritance Unknown
Diagnosis/Initial -
Age/Onset -
Diagnosis/Definite -
Age/Examination 10y (10 years)
Phenotype details head circumference at 12y of 0SD; Height at 12y of 133.5 cm/-2.2SD; Age at puberty of 12y; Bone age of 2y6m at chronological age of 5y7m; Bone age of 11y at chronological age of 9y9m; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion border; Wide mouth; Low-set ears; Broad thumbs; Broad fingertips; Hydronephrosis; Nephrocalcinosis; Recurrent otitis media; Normal intellectual development; Moderate delayed development of expressive language; Mainstream education with support; Normal microarry findings (Affymetrix 2.7M); delayed bone age; brachydactyly (HP:0000153)
Age/Diagnosis -
Birth_Details 40w; weight 3060g (-0.6); paternal age 43y
Phenotype/Onset -
Height-Weight-OFC weight -0.8
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 03:58:31 +02:00 (CEST)
Date last edited 2025-02-03 10:28:40 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.