Global Variome shared LOVD

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Phenotype #0000058643 Individual ID 00078885 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details microcephaly (HP:0000252), downslanting palpebral fissures (HP:0000494), epicanthus (HP:0000286), strabismus (HP:0000486), no blue sclera in infancy (-HP:0000592), no flat midface (-HP:0040199), no thin upper lip (-HP:0000219), everted lower lip (HP:0000232), full tip nose (HP:?), no mircoretrognathia (-HP:0000308), large tip of the nose (HP:?), broad bridge (HP:0000431), flared eyebrows (HP:0011229), telecanthus (HP:0000506), thick overfolded helixes (HP:0000396), joint hypermobility (HP:0001382), short stature (HP:0004322), no gait abnormalities (-HP:0001288), gastroesophageal reflux (HP:0002020), no autism spectrum disorder (-HP:0000729), no repetitive behaviour (-HP:0000733), no sleep disturbance (-HP:0002360); moderate intellectual disability (HP:0002342) 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 2016-07-26 22:25:49 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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