Intellectual disability, and Retinal dystrophy

BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

• Intellectual disability
• Global developmental delay
• Obesity
• Rod-cone dystrophy

SOURCES: OMIM MESH MENDELIAN

BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa (Leitch et al., 2008; Xing et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

• Intellectual disability
• Global developmental delay
• Obesity
• Rod-cone dystrophy
• Polydactyly

SOURCES: MESH OMIM MENDELIAN

BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and mental retardation (Abu-Safieh et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

• Intellectual disability
• Obesity
• Rod-cone dystrophy
• Polydactyly
• Abnormality of the kidney

SOURCES: OMIM MENDELIAN

BBS7 is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism (Harville et al., 2010). Zaghloul and Katsanis (2009) estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%.For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

• Intellectual disability
• Obesity
• Rod-cone dystrophy
• Hypogonadism
• Polydactyly

SOURCES: OMIM MENDELIAN

BBS20 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability (Lindstrand et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

• Intellectual disability
• Microcephaly
• Obesity
• Rod-cone dystrophy
• Hypogonadism

SOURCES: OMIM MENDELIAN

BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

• Intellectual disability
• Cryptorchidism
• Cognitive impairment
• Brachydactyly
• Blindness

SOURCES: OMIM MENDELIAN

• Intellectual disability
• Myopia
• Blindness
• Intellectual disability, mild
• Rod-cone dystrophy

SOURCES: OMIM MENDELIAN

X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.

X-LINKED INTELLECTUAL DISABILITY-RETINITIS PIGMENTOSA SYNDROME Is also known as retinitis pigmentosa and intellectual disability due to xp11.3 microdeletion|aldred syndrome|retinitis pigmentosa and intellectual disability due to del(x)(p11.3)|retinitis pigmentosa and intellectual disability due to monosomy xp11.3

• Intellectual disability
• Cataract
• Visual impairment
• Myopia
• Blindness

SOURCES: ORPHANET OMIM MENDELIAN

• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Ataxia
• Nystagmus

SOURCES: OMIM MENDELIAN

• Intellectual disability
• Muscle weakness
• Edema
• Blindness
• Rod-cone dystrophy

SOURCES: OMIM MENDELIAN