Global Variome shared LOVD

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

Phenotype #0000025566 Individual ID 00029534 Associated disease POH Phenotype details AHO phenotype; neonatal hypoglycemia, hypocalcemia, hypoxia, bradycardia, length/weight above the 95th percentil; laboratory evaluation at 4m revealed elevated TSH; flat nasal bridge, bilateral short fourth metacarpals with classic knuckle-dimple sign consistent with AHO phenotype; round face (HPO_0000311); obesity (HP:0001513) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Francesca Marta Elli Database submission license No license selected Created by Francesca Marta Elli Date created 2012-08-31 12:31:51 +02:00 (CEST) Date last edited 2023-03-03 14:26:42 +01:00 (CET)

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