Phenotype #0000308365

Individual ID	00416855
Associated disease	MCLMR
Inheritance	Familial, autosomal dominant
Phenotype details	8w; cloudiness in both of the baby's eyes; did not seem to react to light stimuli; born after 39 weeks and 2 days of pregnancy with a birthweight of 3,010 g,no evidence of infection during pregnancy; edema of the forehead, neck, and feet were observed in the 16th week of gestation; birth: severe microcephaly (head circumference 30 cm [-3 SD]) as well as edema at the dorsa of the feet; during the neonatal period, Turner syndrome ruled out with genetic testing; echocardiography: inconspicuous, no abnormal abdominal or pelvic symptoms; both eyes: normal intraocular pressure; right eye: anterior chamber normal with perfused vessels visible through the clear lens; retrolental white mass with vessels, left eye: the anterior chamber almost completely dislodged, vessels drawn from the iris to the lens, the lens clear, but the ciliary body villi pulled backward, a retrolental white mass with vessels; chamber angle not visible by gonioscopy in the left eye; funduscopy was not possible in either eye due to the white retrolental masses; axial length right/left eye: 15.82 / 16.51 mm ; explorative vitrectomy performed on the right eye via pars plana after a potential persistent hyperplastic primary vitreous was detected in both ultrasound and magnetic resonance imaging: total retinal detachment found
Diagnosis/Initial	-
Age/Examination	56d
Diagnosis/Definite	microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-08 11:16:49 +02:00 (CEST)
Date last edited	N/A