Global Variome shared LOVD

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

Phenotype #0000051344 Individual ID 00065237 Associated disease DD Phenotype details Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), no seizures (-HP:0001250), Scoliosis (HP:0002650), Microcephaly (Z score -3.8) (HP:0000252), Deeply set eye (HP:0000490), Gingival overgrowth (HP:0000212), Short philtrum (HP:0000322), Retrognathia (HP:0000278), Prominent fingertip pads (HP:0001212), Muscular hypotonia of the trunk (HP:0008936), Limb hypertonia (HP:0002509), Hyporeflexia (HP:0001265), Dystonic posturing (HP:0002533), Abnormality of visual evoked potentials (HP:0000649), Abnormal electroretinogram (HP:0000512), Cerebellar atrophy (HP:0001272), Cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-05-24 10:05:10 +02:00 (CEST) Date last edited 2016-10-11 12:31:54 +02:00 (CEST)

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