Global Variome shared LOVD

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

Phenotype #0000335919 Individual ID 00446717 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite GDACCF Phenotype details see paper; ..., birth 40w; no respiratory distress; no fetal hydrops/edema; feeding difficulty with solid food; no spasticity extremities; no hypotonia; no recurrent infections; no renal anomalies; no cardiac defect; no sketelal anomalies; small hands, short fingers and nails, abnormal palmar and plantar creases, dorsally bent 2nd toes syndactyly 2/3 toes; no seizures, EEG normal; delayed motor development, 19m-walk; no intellectual disability; no speech delay; no behavioural problems; no ophthalmological problems; no hearing problems; no altered sensation pain/heat/smell/touch; right tear duct stenosis; high, prominent forehead, flat and triangular face; broad, square chin, with double peaks; nose broad nasal base, long columella, mildly hypoplastic alae nase; short upper labium frenulum, thin upper lip; no dental anomalies; normal ears; eyebrows unidentifiable, short nails; no haematological problems Inheritance Isolated (sporadic) Age/Examination 1y8m (1 year, 8 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-01-22 13:14:03 +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.