Phenotype #0000350759

Individual ID	00465223
Associated disease	?
Diagnosis/Initial	fetal anomalies
Diagnosis/Definite	-
Phenotype details	see paper; ..., 13wg-antenatal ultrasound microcephaly, lower limb in hyperextension; birth 37wg, weight 1760 g, microcephaly (OFC 24.5 cm), incomplete Pierre Robin sequence (mandibular hypoplasia, glossoptosis, upper airway obstruction without cleft palate), clubfoot, camptodactylia, pulmonary hypoplasia; deceased minutes after birth, limbs malformation, severe microcephaly, dysmorphic features face (broad nasal root, flat face, deep crease philtrum, long thin upper lip, large ears), brain impairment cortical development, absence of layer organisation, deep columns of defective migrating cells
Inheritance	Familial, autosomal recessive
Age/Examination	00y00m00d ()
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-04-17 19:55:06 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD