Phenotype #0000345757

Individual ID	00457264
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., no prenatal issues, birth 37w, SVD, weight 2880 g (10%); no neonatal jaundice; 3y-sit; not yet walking; 3y-single words; normal eyebrows; no hypotelorism, no hypertelorism; normal palpebral fissures; no strabismus; no ptosis; no prominent philtrum; no thin upper lip; no tented mouth; no everted lower lip; no micro-/retro-/pro-gnathia; no open mouth; subtle dysmorphic features; intellectual disability; hypotonia; noraml cranial nerves; normal motor strength; normal sensory exam; normal reflexes; no movement abnormalities; no seizures; no hepatomegaly; no liver dysfunction; no intractable itching (pruritus); no recurrent pancreatitis; no feeding difficulty; no gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; no recurrent respiratory infections; no recurrent skin infections;
Inheritance	Familial, autosomal recessive
Age/Examination	4y (4 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