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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