Cognitive impairment, and Visual impairment

Diseases related with Cognitive impairment and Visual impairment

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Visual impairment that can help you solving undiagnosed cases.


Top matches:

Low match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Low match CLN11 DISEASE


Neuronal ceroid lipofuscinosis-11 is an autosomal recessive neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur (summary by Smith et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Seizures
  • Ataxia
  • Visual impairment
  • Optic atrophy
  • Cerebellar atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLN11 DISEASE

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23


Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

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Other less relevant matches:

Low match BARDET-BIEDL SYNDROME 4; BBS4


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

Low match RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ANOMALIES


Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with fotophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.

RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ANOMALIES Is also known as retinal dystrophy with inner nuclear layer and ganglion cell anomalies

Related symptoms:

  • Dementia
  • Photophobia
  • Pallor
  • Nyctalopia
  • Retinal dystrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ANOMALIES

Low match PAPILLOMA OF CHOROID PLEXUS


Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor (see this term), accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.

PAPILLOMA OF CHOROID PLEXUS Is also known as cpp|choroid plexus papilloma

Related symptoms:

  • Seizures
  • Neoplasm
  • Cognitive impairment
  • Visual impairment
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS

Low match RETINITIS PIGMENTOSA 51; RP51


Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Myopia
  • Blindness
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 51; RP51

Low match BARDET-BIEDL SYNDROME 18; BBS18


BBS18 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability (Scheidecker et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cataract
  • Cognitive impairment
  • Visual impairment
  • Brachydactyly
  • Renal insufficiency


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 18; BBS18

Low match COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA; CIAT


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA; CIAT

Low match BARDET-BIEDL SYNDROME 5; BBS5


BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties (summary by Scheidecker et al., 2015). Patients described by Young et al. (1999) and Moore et al. (2005) with mutations in the BBS5 gene did not have polydactyly. The contribution of BBS5 mutations to all cases of BBS has been estimated at 2% (Li et al., 2004) and 0.40% (Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Visual impairment
  • Brachydactyly
  • Syndactyly
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 5; BBS5

Top 5 symptoms//phenotypes associated to Cognitive impairment and Visual impairment

Symptoms // Phenotype % cases
Retinal dystrophy Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Rod-cone dystrophy Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Visual impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Brachydactyly Global developmental delay Intellectual disability Nyctalopia

Rare Symptoms - Less than 30% cases


Photophobia Syndactyly Pallor External genital hypoplasia Hypertonia Reduced visual acuity Ataxia Hypogonadism Blindness Broad-based gait Optic nerve hypoplasia Macular dystrophy Abnormality of nervous system morphology Choroid plexus papilloma Postaxial polydactyly Myopia High myopia Macular degeneration Esophoria Gaze-evoked nystagmus Emotional lability Attenuation of retinal blood vessels Dysmetria Bone spicule pigmentation of the retina Abnormal light- and dark-adapted electroretinogram Amblyopia Cataract Hydrocephalus Renal insufficiency Stage 5 chronic kidney disease Nystagmus Dysarthria Hyperactivity Attention deficit hyperactivity disorder Hemiplegia/hemiparesis Generalized myoclonic seizures Neoplasm Lactic acidosis Mental deterioration EEG abnormality Generalized hypotonia Feeding difficulties Intrauterine growth retardation Cardiomyopathy Congestive heart failure Arrhythmia Acidosis Hypertrophic cardiomyopathy Feeding difficulties in infancy Increased serum lactate Central scotoma Cryptorchidism Visual loss Abnormality of the dentition Cerebellar atrophy Clinodactyly Optic atrophy Retinal degeneration Renal cyst Anosmia Dementia Progressive visual loss Optic disc pallor Severe vision loss



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