Phenotype #0000309734

Individual ID	00418366
Associated disease	BBS
Phenotype details	visual problems during both day and night since early childhood; born full-term, no fetal distress; spoke at 14 months and walked at 18 months; estimate of intelligence was based on the proband's social performance; speech problems, uncooperative and irritable during routine examinations; learning difficulties; considered mentally retarded; best corrected visual acuity: 20/200 both eyes, refraction right / left eye: 11.0D /-10.50D; evidence of retinitis pigmentosa, including attenuation of the retinal vessels and waxy atrophy of the optic disc, appearing more severe in her right eye, few pigmentary deposits in the peripheral retina of either eye; retinal pigment epithelium mottling and choroidal sclerosis-type changes; spectral domain optical coherence tomography: structural damage in the maculae, including extensive thinning of the neuroretina, almost complete absence of inner/outer segment junctions (partially preserved in the fovea), and dystrophy of the RPE; weight: was 25 kg, height: 110 cm; trunity, body mass index (BMI) of 20.66 kg/m2, according to the obesity standards for children of corresponding age; dysmorphism with the surgical scars shown on both hands and right foot; ultrasonography and the functional tests for liver and kidneys: normal; father no signs of BBS except a surgical history of an extra digit removal from his right hand
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome (BBS)
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-28 22:22:33 +02:00 (CEST)
Date last edited	2022-09-28 22:24:31 +02:00 (CEST)