Phenotype #0000308344

Individual ID	00416624
Associated disease	MCLMR
Inheritance	Isolated (sporadic)
Phenotype details	learning disability, first noted at age 3 years, and a family history of a learning disability in mother and maternal grandfather; medical records - 2d: head circumference in the fifth percentile and pedal edema; 9y: microcephaly, intellectual disability, and dysmorphic features; best-corrected visual acuity right, left eye: 20/80, 20/40; low hyperopia; extraocular motility, pupils, and anterior segments: normal; fundus: optic disc pallor and gliosis, atrophic chorioretinal lesions inferior to the optic discs and smaller scattered areas of chorioretinal atrophy temporally; retinal angiography and optical coherence tomography: loss of the photoreceptor layers temporally and inferiorly, corresponding to the areas of chorioretinal atrophy visible by ophthalmoscopy, pedal lymphedema
Diagnosis/Initial	-
Age/Examination	<15y (before 15 years)
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	2022-09-07 14:06:54 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD