Global Variome shared LOVD

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

Phenotype #0000051220 Individual ID 00065115 Associated disease - Phenotype details see paper: developmental disability (HP:?), no developmental regression (-HP:0002376), severe hypotonia (HP:0006829), bilateral optical atrophy (HP: ?), severe esotropia (HP:0000565), no abnormal hearing (-HP:0100704), right-sided aortic arch (HP:0012020), 11 ribs (HP:0000878), turricephaly (HP:0000262), hypertrichosis (HP:0000998), bitemporal narrowing (HP:0000341), no arched eyebrows (-HP:0002553), no deep-set eyes (-HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), coarse features (HP:0000280), no macroglossia (-HP:0000158) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 00y24m (24 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-05-18 15:03:13 +02:00 (CEST) Date last edited 2016-05-18 17:23:50 +02:00 (CEST)

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