Phenotype #0000310498

Individual ID	00419211
Associated disease	CFSMR
Phenotype details	see paper; ..., birth weight 3750g (+1.4SD); global developmental delay, hypotonia, hearing loss; 1y2m-sat unsupported, able to stand up with support, able to grasp and transfer objects between hands and throw things on floor; spoke about five words; visually alert, socially awake, friendly demeanor; hypertrichosis, macrocephaly, brachycephaly, plagiocephaly, dysmorphic facial features (frontal bossing, receding frontal hairline with frontal upsweep, long, straight and bushy eyebrows, synophrys, long eyelashes, wide nasal bridge, short nose with upturned tip, deep and long philtrum, small mouth with thin upper lip, large protruding tongue, low-set ears; short neck with low posterior hairline, prominent interdigital folds, joint laxity, diastasis recti; 22-OFC increased (50.5cm, +2.6SD), length 87 cm (+0.87SD), weight 11.9kg (+0.13SD) within normal range
Diagnosis/Initial	cerebro-facio-thoracic dysplasia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CFSMR1
Age/Examination	00y22m (22 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Tess Holling
Database submission license
Created by	Tess Holling
Date created	2022-10-18 14:03:37 +02:00 (CEST)
Date last edited	2024-04-10 11:37:02 +02:00 (CEST)

Global Variome shared LOVD