Global Variome shared LOVD

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

Phenotype #0000318911 Individual ID 00427965 Associated disease DD Phenotype details Hypospadias (HP:0000047); Atrial septal defect (HP:0001631); Inguinal hernia (HP:0000023); Sacral dimple (HP:0000960); Short stature (HP:0004322); Motor delay (HP:0001270); Speech delay (HP:0000750); Hypotonia (HP:0001252); Broad toes (HP:0001837); Short distal phalanx of hallux (HP:0010103); Small nails (HP:0001792) and nail dysplasia (HP:0002164); Downslanted palpebral fissures (HP:0000494) Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 24y (24 years) 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 2022-12-19 11:28:57 +01:00 (CET) Date last edited 2022-12-19 16:45:06 +01:00 (CET)

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