Phenotype #0000310201

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00418913
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	MRD62
Phenotype details	Caesarean due to maternal sepsis; birth 37w2d, weight 3516g; weight 8.3kg (P<1), height 80.8cm (P3), OFC 47cm (P19); MRI normal; hypertelorism synophrys thick eyebrows; small nasal base; full lips; single palmar creases; premature pubarche;
Inheritance	Isolated (sporadic)
Age/Examination	2y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-13 19:59:42 +02:00 (CEST)
Date last edited	N/A

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