Global Variome shared LOVD

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

Phenotype #0000049866 Individual ID 00003117 Associated disease CFND;CFNS Phenotype details coronal craniosynostosis R/L (HP:0004440), hypertelorism (HP:0000316), grooved nasal tip (HP:0000456), nodown slanting palpebral fissures (HP:0000494), high arched palate (HP:0002705), agenesis corpus callosum (HP:0001274), mild learning disability (HP:0001328), Sprengel deformity (HP:0000912), grooved nails (HP:0001807), brachydactyly (-HP:0001156) delta phalanx digit one right hand, syndactyly 2nd-3rd toes L (HP:0004691), no clinodactyly (-HP:0030084), low set ears (-HP:0000369), no wiry hair, ptosis (HP:0000508) left eye only, undescended testes R/L (HP:0000028), mild pectus excavatum, duplication of distal phalanx R thumb, postaxial polydactyly type B R hand, R inguinal hernia Diagnosis/Initial - Inheritance Familial, X-linked Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2016-04-08 19:35:03 +02:00 (CEST) Date last edited N/A

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