Phenotype #0000345746

Individual ID	00457253
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., no prenatal issues, birth 38w, C-section, weight 2750 g (10%), height 48cm (21%), OFC 34cm (20%); 2y-sit; 4y-walk; 5y-single words; global developmental delay; normal eyebrows; hypotelorism; normal palpebral fissures; strabismus; ptosis; prominent philtrum; thin upper lip; no tented mouth; micrognathia; Synophrys; intellectual disability; hypotonia; weak motor strength; normal reflexes; seizures; hepatomegaly; liver dysfunction; intractable itching (pruritus); mild recurrent pancreatitis; feeding difficulty; gastresophageal reflux; steatorrhea; chronic diarrhea; gallstones; no gastrostomy tube; no undescended testicles; mild pelviectasis; recurrent respiratory infections; no recurrent skin infections; MRI brain normal
Inheritance	Familial, autosomal recessive
Age/Examination	3y6m (3 years, 6 months)
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