Global Variome shared LOVD

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

Phenotype #0000054231 Individual ID 00074413 Associated disease CPSFS1A Phenotype details no downslanting palpebral fissures (-HP:0000494), no ptosis (-HP:0000508), no long nasal bridge (-HP:?), low-set posteriorly rotated ears (HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), antecubital webbing (HP:0009760), elbow contractures (HP:0002987), knee contractures (HP:0006380), popliteal webbing (HP:0009756), no foot contractures (-HP:0005745), scoliosis (HP:0002650), short neck (HP:0000470), neck webbing (HP:0000465), vertebral fusion (HP:0002948), bilateral inguinal hernia (HP:0000023), spondylolisthesis (HP:0003302) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - 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 2016-06-27 20:47:35 +02:00 (CEST) Date last edited 2017-07-24 21:25:25 +02:00 (CEST)

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