Global Variome shared LOVD

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

Phenotype #0000347854 Individual ID 00114694 Associated disease SCKL Diagnosis/Initial Seckel syndrome Diagnosis/Definite MOPD2 Phenotype details Sloping forehead, prominent nose, retrognathia. Normal skeletal xrays, though significantly retarded bone age. IQ 50. Normal MRI brain. Inheritance Familial, autosomal recessive Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2025-01-18 12:28:45 +01:00 (CET) Date last edited N/A

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