Global Variome shared LOVD

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

Phenotype #0000297037 Individual ID 00404445 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 40w length 46.5 cm (-2.27 SD)birth 40w length 46.5 cm (-2.27 SD), weight 3.16 kg (-0.82 SD), OFC 35 cm (-0.16 SD); height 140 cm (-1.88 SD), weight 28 kg (-2.69 SD), OFC 53 cm (-1.51 SD); MRI thin corpus callosum; walk 15 months but delayed speech. School difficulties, attending special school; dysmorphism with striking hypertelorism, mandibular incisors agenesis; major feeding difficulties; normal skin; no urogenital anomalies; hands : polydactyly, postaxial, feet syndactyly 3-4, flexion knees and ankles; no hearing loss; astigmatism; heart defect; Inheritance Isolated (sporadic) Age/Examination 13y (13 years) 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 2022-03-02 10:20:20 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.