Phenotype #0000345747

Individual ID	00457254
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., birth 42w, C-section, weight 1640 g (-3.4 SD), height 43 cm (-2.9 SD), OFC 31 cm (2.6 SD); no neonatal jaundice; global developmental delay; normal eyebrows; hypotelorism; normal palpebral fissures; no strabismus; no ptosis; prominent philtrum; thin upper lip; no tented mouth; everted lower lip; prognathia; open mouth; post axial polydactyly, periauricular skin tag, gum/alveolar hypertrophy, high arched palate, single palm crease; intellectual disability; hypotonia; mild hepatomegaly; no liver dysfunction; intractable itching (pruritus); feeding difficulty; no gallstones;
Inheritance	Familial, autosomal recessive
Age/Examination	25y (25 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-04 09:10:12 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD