Global Variome shared LOVD

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

Phenotype #0000084331 Individual ID 00106518 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details Severe Developmental delay/Intellectual disability, Speech/language delay Motor delay, Microcephaly, Bilateral occipital protuberances, long nasal bridge with mildly hypolastic alae nasi, Multiple lateral flaring of eyebrows, ; outward deviation of one eye, Pes planus, 5th digit clinodactyly, windswept 2nd toe with lateral deviation, broad short great toes dental caries; profound intellectual disability (HP:0002187); severe global developmental delay (HP:0011344); speech delay (HP:0000750) Age/Examination 07y09m (7 years, 9 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Bernt Popp Database submission license No license selected Created by Bernt Popp Date created 2017-07-02 21:11:17 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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