Phenotype #0000161938

Individual ID	00213475
Associated disease	?
Diagnosis/Initial	neurodevelopmental syndrome
Diagnosis/Definite	-
Phenotype details	microcephaly (HP:0000252), micrognathia (HP:0000347), arched eyebrows (HP:0002553); hypertonia (HP:0001276), low-lying conus medullaris (HP:0002143); hydronephrosis (HP:0000126), small kidneys (HP:0000089); vision loss (HP:0000572), Peters anomaly (HP:0000659), glaucoma (HP:0000501), buphthalmos (HP:0000557); clinodactyly, fifth finger, right hand (HP:0030084), absent fourth and fifth digits, left foot; absent fifth digit, right foot (HP:0006209), contractures of left arm and leg (HP:0001371), Intrauterine growth restriction (HP:0001511), small for gestational age (HP:0001518), failure to thrive (HP:0001508), sacral dimple (HP:0000960), patent ductus arteriosus after premature birth (HP:0011649), patent foramen ovale (HP:0001655), tricuspid regurgitation (HP:0005180), heart murmur (HP:0030148), bilateral superior vena cava with no bridging vein (HP:0011668), anemia (HP:0001903), lymphopenia (HP:0001888), neutropenia (HP:0001875), oral-pharyngeal dysphagia (HP:0200136); 4m-deceased
Inheritance	Familial, autosomal recessive
Age/Examination	00y04m (4 months)
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	2019-01-12 19:25:07 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD