Global Variome shared LOVD

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

Phenotype #0000058645 Individual ID 00078887 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details no microcephaly (-HP:0000252), no downslanting palpebral fissures (-HP:0000494), epicanthus (-HP:0000286), strabismus (HP:0000486), no blue sclera in infancy (-HP:0000592), flat midface (HP:0040199), thin upper lip (-HP:0000219), everted lower lip (HP:0000232), abnormality of the nares (HP:0005288), full tip nose (HP:?), micrognathia (HP:0000347), high nasal bridge (HP:0000426), dysplastic ears (HP:0000377 ), posteriorly rotated ears (HP:0000358), joint hypermobility (HP:0001382), no short stature (-HP:0004322), ataxia gait (HP:0002066), pectus excavatum (HP:0000767), no autism spectrum disorder (-HP:0000729), no repetitive behaviour (-HP:0000733), no sleep disturbance (-HP:0002360); moderate intellectual disability (HP:0002342) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-07-26 22:37:10 +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.