Global Variome shared LOVD

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

Phenotype #0000054224 Individual ID 00074406 Associated disease CPSFS1A Phenotype details downslanting palpebral fissures (HP:0000494), no ptosis (-HP:0000508), long nasal bridge (HP:?), no low-set posteriorly rotated ears (-HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), no antecubital webbing (-HP:0009760), elbow contractures (HP:0002987), limited forearm supination (HP:0006394), no knee contractures (-HP:0006380), no popliteal webbing (-HP:0009756), no foot contractures (-HP:0005745), scoliosis (HP:0002650), short neck (HP:0000470), no neck webbing (-HP:0000465), short stature (HP:0004322), vertebral fusion C1-C2 (HP:0002948), webbing of fingers (HP:0006101) 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 17:51:57 +02:00 (CEST) Date last edited 2017-07-24 21:08:29 +02:00 (CEST)

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