Phenotype #0000254802

Individual ID	00302606
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	birth 40w, now OFC 32cm, weight 3.1kg; weight 21kg, height 82cm; not sitting, not standing; speech two words till now, 54m-first words; moderate intellectual disability; MRI brain abnormal; cerebral atrophy; enlarged lateral ventricles; corpus callosum atrophy; simplified gyral pattern; hypotonia; long face, brachycephaly, low anterior hair line, fuzzy hair, mild sagging eyelid, prominent nose and nasal tip, v-shaped upper lip, short philtrum, low set protruding ears; microcephaly; wide internipple distance; no skin anomaly; paranasal sinus volume not increased; no autistic behaviour; no aggression; no genitourinary abnormalities; no sleep disturbance; no scoliosis/kyphosis; no seizures
Inheritance	Familial, autosomal recessive
Age/Examination	12y (12 years)
Age/Diagnosis	-
Age/Onset	00y00m01d
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-03-25 09:34:13 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD