Phenotype #0000307187

Individual ID	00415393
Associated disease	NDD
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	39w-, length 48cm (-1.7), weight 2390g (-2.53), OFC 32cm (-2.54); small for gestational age (approx. 3rd percentile), increase nucal translucency, neonatal hyperbilirubinemia (phototherapy), failure to thrive neonatal period; height 75.7cm (-4.13), weight 8.84Kg (-3.05), OFC 46.5cm (-2.71), BMI 15.4 (-0.42); delayed bone age (20m at 2y2m); 16m-walk; not toilet trained; dependent for all cares; 24m-first words, speaks 5-6 words; attends playgroup; no autistic features; happy, social; no sleep disturbances; no seizures; no hypotonia; frequent airway infections; mild peripheral stenosis of the left pulmonary artery; tendency to constipation; left renal agenesis, right kidney normal in shape and function; no endocrinological abnormalities; increased plasma methylmalonic acid (up to >9x upper limit); no immunological abnormalities; no skeletal/limb abnormalities; broad and prominent forehead, a bulbous tip of the nose, retrognathia, low set posteriorly rotated ears
Inheritance	Isolated (sporadic)
Age/Examination	2y2m (2 years, 2 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-08-13 16:30:49 +02:00 (CEST)
Date last edited	N/A