Global Variome shared LOVD

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Phenotype #0000051207 Individual ID 00065101 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details mild prominence of the lateral ventricles (HP:?), epicanthal folds (HP:0000286), broad nasal bridge (HP:0000431), deep-set eyes (HP:0000490), autism (HP:0000717), bipolar disorder (HP:0007302), high-arched palate (HP:0000218), broad fingers (HP:0001500) and toes (HP:0001837), mild scoliosis (HP:0002650), no ventilator dependence (-HP:0005946); moderate intellectual disability (HP:0002342); mild global developmental delay (HP:0011342), motor delay (HP:0001270); mild speech delay (HP:0000750) Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-05-17 14:51:58 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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