Phenotype #0000243401

Individual ID	00324905
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth 38w+4d, weight 4418g (+2.6SD); weight 29kg (+1.1SD), length 126cm (+0.3SD), OFC 57.5cm (+3.8SD); mild intellectual disability; motor developmental delay; 32m-walk; impaired speech development; impaired receptive language; muscular hypotonia; no autistic features; prominence of extra-axial space and thin corpus callosum; gait "akward"; attention deficit hyperactivity disorder; seizures; no strabism; no visual impairment; no agressive behaviour; sleep apnea; no myopia/hyperopia; no hearing impairment; remnant/mild epicanthic folds; thin upper lip; no dental anomalies; frontal bossing; open mouth appearance; no deep set eyes; no upslanting palpebral fissures; plagiocephaly; small ears; no broad nasal bridge; neonatal feeding difficulties; 11 ribs left-side; no gastroesophageal reflux; no heart anomalies
Inheritance	Familial, autosomal dominant
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-12-24 16:46:49 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD