Symptoma

Bardet-Biedl Syndrome Type 16

BBS16

  • Developmental Delay

    delay, 613094 GFER Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 GJA1 Atrioventricular septal defect 3 600309 GJA1 Craniometaphyseal dysplasia, autosomal recessive, 218400 GJA1 Erythrokeratodermia [qgenomics.com]

  • Hypertension

    Night blindness, congenital stationary, type 1G, 616389 GNAT2 Achromatopsia-4, 613856 GNB3 Night blindness, congenital stationary, type 1H, 617024 GNB3 {Hypertension, essential, susceptibility to}, 145500 GNPTG Mucolipidosis III gamma, 252605 GPR143 Nystagmus [qgenomics.com]

  • Night Blindness

    Night blindness, congenital stationary, type 1G, 616389 GNAT2 Achromatopsia-4, 613856 GNB3 Night blindness, congenital stationary, type 1H, 617024 GNB3 {Hypertension, essential, susceptibility to}, 145500 GNPTG Mucolipidosis III gamma, 252605 GPR143 Nystagmus [qgenomics.com]