Global Variome shared LOVD

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

Phenotype #0000243023 Individual ID 00324480 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details prenatal growth retardation (−2SDs); postnatal growth retardation (−2SDs); no developmental delay/intellectual disability; no speech delay; no hypotonia; microcephaly (−2SDs); long/triangular face; high forehead; high nasal bridge; long nose; no thick lips; short chin; pointed china; no Pierre Robin sequence/cleft palate; dental crowding; skeletal anomalies; short hands/brachydactyly; narrow iliac wing,coxa valga; no squared vertebrae; no 11 pairs of ribs; no scoliosis; no joint abnormalities; hearing loss (conductive); no cardiac defects Inheritance Familial, autosomal recessive Age/Examination 22y (22 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-12-14 19:34:41 +01:00 (CET) Date last edited N/A

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