Intellectual disability, and Retinal dystrophy

Diseases related with Intellectual disability and Retinal dystrophy

In the following list you will find some of the most common rare diseases related to Intellectual disability and Retinal dystrophy that can help you solving undiagnosed cases.

Top matches:

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 ).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about BARDET-BIEDL SYNDROME 14; BBS14

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 ).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 13; BBS13

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 ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 9; BBS9

Other less relevant matches:

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 ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 7; BBS7

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 ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 20; BBS20

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 ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 4; BBS4

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 75; RP75

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-RETINITIS PIGMENTOSA SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 28; JBTS28

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 76; RP76

Top 5 symptoms//phenotypes associated to Intellectual disability and Retinal dystrophy

Symptoms // Phenotype % cases
Rod-cone dystrophy Very Common - Between 80% and 100% cases
Obesity Common - Between 50% and 80% cases
Polydactyly Uncommon - Between 30% and 50% cases
Nyctalopia Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Retinal dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Retinopathy Hypogonadism Global developmental delay

Rare Symptoms - Less than 30% cases

Constriction of peripheral visual field Peripheral visual field loss Pallor Myopia Retinal degeneration Reduced visual acuity Abnormality of the kidney External genital hypoplasia Muscle weakness Nystagmus Choroideremia Chorioretinal degeneration Mild myopia Generalized hypotonia Ataxia Retinal thinning Cystoid macular edema Molar tooth sign on MRI Abnormality of eye movement Macular edema Apraxia Oculomotor apraxia Chorioretinal atrophy Optic disc pallor Edema Retinal atrophy Decreased light- and dark-adapted electroretinogram amplitude Mixed astigmatism Iris hypopigmentation Clinodactyly Postaxial polydactyly Microcephaly Cryptorchidism Cognitive impairment Brachydactyly Abnormality of the dentition Syndactyly Renal cyst Scotoma Anosmia Intellectual disability, mild Astigmatism Cataract Visual impairment Visual loss Pigmentary retinopathy High myopia Peripapillary atrophy


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