Global Variome shared LOVD

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

Phenotype #0000051860 Individual ID 00072155 Associated disease CSCSC1 Phenotype details decreased head circumference present at birth (HP:0011451), reduced head circumference – current (HP:0000252), cleft palate (HP:0000175), creases limbs: fingers, neck, penis – improved at follow-up, but visible (HP:?), microphthalmia (HP:0000568), short palpebral fissures (HP:0012745), epicanthal folds (HP:0000286), flat supraorbital ridge (HP:0009891), low nasal bridge (HP:0005280), long philtrum (HP:0000343), small mouth (HP:0000160), small low-set posteriorly rotated malformed (HP:0000377) ears (HP:0000368) with thick overfolded helices (HP:0000396), brachycephaly (HP:0000248), wide-spaced nipples (HP:0006610), intellectual disability, mild (HP:0001256), normal brain imaging (HP:?) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-05-30 11:19:45 +02:00 (CEST) Date last edited 2017-03-24 20:12:15 +01:00 (CET)

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