Global Variome shared LOVD

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

Phenotype #0000014982 Individual ID 00016382 Associated disease PHS Phenotype details no growth delay/growth hormone deficiency; no insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; bifid epiglottis; no cardiac anomalies; no renal anomalies; no genital anomalies; no lung dysplasia; no intellectual disability; nail dysplasia; overlapping toes, preauricular tag Diagnosis/Initial Pallister–Hall syndrome Inheritance Isolated (sporadic) Diagnosis/Definite PHS Age/Examination 00y04m (4 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 04:31:25 +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.