Global Variome shared LOVD

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

Phenotype #0000316022 Individual ID 00424827 Associated disease DD Phenotype details Intrauterine growth retardation (HP:0001511); Caesarian section (HP:0011410); Premature birth (HP:0001622); Respiratory failure requiring assisted ventilation (HP:0004887); Hypospadias (HP:0000047); Inguinal hernia (HP:0000023); Motor delay (HP:0001270); Speech delay (HP:0000750); Intellectual disability (HP:0001249); Intellectual disability, mild (HP:0001256); Hypotonia (HP:0001252); Seizure (HP:0001250); Autistic behavior (HP:0000729); Sleep disturbance (HP:0002360); High forehead (HP:0000348); Preauricular skin tag (HP:0000384); Downslanted palpebral fissures (HP:0000494); Deeply set eye (HP:0000490) Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 07y11m (7 years, 11 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Frederike Leonie Harms Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Frederike Leonie Harms Date created 2022-11-22 14:53:13 +01:00 (CET) Date last edited 2022-12-19 16:48:13 +01:00 (CET)

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