Global Variome shared LOVD

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

Phenotype #0000014994 Individual ID 00016393 Associated disease PHS Phenotype details growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no renal anomalies; no genital anomalies; no intellectual disability; nail dysplasia; syndactyly Diagnosis/Initial Pallister–Hall syndrome Inheritance Isolated (sporadic) Diagnosis/Definite PHS Age/Examination 02y03m (2 years, 3 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Tania Attie-Bitach Database submission license No license selected Created by Tania Attie-Bitach Date created 2014-04-02 05:44:47 +02:00 (CEST) Date last edited 2021-05-24 10:16:24 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.