Global Variome shared LOVD

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

Phenotype #0000051862 Individual ID 00072156 Associated disease CSCSC1 Phenotype details no decreased head circumference present at birth (HP:0011451), reduced head circumference – current (HP:0000252), cleft palate (HP:0000175), creases limbs and neck; disappeared at age 4 years; still creases on wrists (HP:?), short palpebral fissures (HP:0012745), blepharophimosis (HP:0000581, broad nasal bridge (HP:0000431) with epicanthal folds (HP:0000286), flat face (HP:0012368), small mouth (HP:0000160), mild asymmetry in face and abdomen (HP:?), low-set dysmorphic and posteriorly rotated ears (HP:0000368), short neck (HP:0000470), long fingers (HP:0100807), intellectual disability, mild (HP:0001256) to intellectual disability, moderate (HP:0002342), normal brain imaging (HP:?), infantile hypotonia (HP:0008947) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 05y06m (5 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-05-30 11:27:16 +02:00 (CEST) Date last edited 2017-03-24 20:14:06 +01:00 (CET)

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