Phenotype #0000230574

Individual ID	00303496
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	birth weight 0 SD, OFC –0.25 SD; postnatal weight –2.4 SD, OFC –2 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; no seizures; contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; normal hands, normal feet; strabismus; skin maculopa pular cutaneous eruption; pectus; no scoliosis; inguinal hernia; hypertrophic cardiomyopathy; no gastrourigenital defects; no lymphatic malformations; recurrent infections; sparse hair, hair whorls; sparse eyebrows; prominent forehead; hypertelorism; no wide palpebral fissures; no everted lateral eyelids; epicanthal folds; no ptosis; wise nasal bridge; flared nostrils; broad nasal tip; no low-hanging columella; underdeveloped midface; long philtrum; thin upper vermillion; normal mouth; ears thick helix; webbed neck; MRI brain mildly prominent perivascular white matter signal intensities (posteriorly), ventriculomegaly, increased extra-axial space, mildly thin corpus callosum, large tectum
Inheritance	Isolated (sporadic)
Age/Examination	4y (4 years)
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	2020-06-15 09:56:59 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD