Phenotype #0000054230

Individual ID 00074412
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), no antecubital webbing (-HP:0009760), no elbow contractures (-HP:0002987), no hip contractures (-HP:0003273), knee contractures (HP:0006380), popliteal webbing (HP:0009756), limited ankle
dorsiflexion (HP:?), scoliosis (HP:0002650), short neck (HP:0000470), neck webbing (HP:0000465), short stature (HP:0004322), vertebral fusion (HP:0002948), cleft palate (HP:0000175), craniosynostosis (HP:0001363)
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 20:36:14 +02:00 (CEST)
Date last edited 2017-07-24 21:23:00 +02:00 (CEST)

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