Global Variome shared LOVD

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Phenotype #0000058638 Individual ID 00078880 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details no microcephaly (-HP:0000252), no downslanting palpebral fissures (-HP:0000494), no epicanthus (-HP:0000286), strabismus (HP:0000486), no blue sclera in infancy (-HP:0000592), flat midface (HP:0040199), thin upper lip (HP:0000219), everted lower lip (HP:0000232), abnormality of the nares (HP:0005288), no mircoretrognathia (-HP:0000308), coarse hair (HP:0002208), no external ear anomalies (-HP:0000356), no joint hypermobility (-HP:0001382), no short stature (-HP:0004322), broad based gait abnormalities (HP:0002136), truncal ataxia (HP:0002078), autism spectrum disorder (HP:0000729), repetitive behaviour (HP:0000733), recurrent hand flapping (HP:0100023), sleep disturbance (HP:0002360); moderate/severe intellectual disability (HP:0001249) 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 21:48:00 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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