Cataract, and Intellectual disability, mild

Diseases related with Cataract and Intellectual disability, mild

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


Top matches:

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69


Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69 Is also known as spg69

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Cataract
  • Intellectual disability, mild
  • Agenesis of corpus callosum


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69

Medium match WEILL-MARCHESANI SYNDROME


Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.

WEILL-MARCHESANI SYNDROME Is also known as spherophakia-brachymorphia syndrome

Related symptoms:

  • Short stature
  • Cataract
  • Brachydactyly
  • Ventricular septal defect
  • Intellectual disability, mild


SOURCES: ORPHANET MENDELIAN

More info about WEILL-MARCHESANI SYNDROME

Medium match GYRATE ATROPHY OF CHOROID AND RETINA


Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.

GYRATE ATROPHY OF CHOROID AND RETINA Is also known as ornithine-delta-aminotransferase deficiency|hoga|hyperornithinemia-gyrate atrophy of choroid and retina syndrome|gyrate atrophy|oat deficiency|ornithine aminotransferase deficiency|hyperornithinemia|ornithine keto acid aminotransferase deficiency|okt defi

Related symptoms:

  • Intellectual disability
  • Cataract
  • Delayed speech and language development
  • Myopia
  • Blindness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GYRATE ATROPHY OF CHOROID AND RETINA

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Other less relevant matches:

Medium match MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME


SC4MOL deficiency represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).

MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME Is also known as smo deficiency|sterol-c4-methyl oxidase deficiency|sc4mol deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME

Medium match HYPOMYELINATION-CONGENITAL CATARACT SYNDROME


Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.

HYPOMYELINATION-CONGENITAL CATARACT SYNDROME Is also known as hypomyelination and congenital cataract: hcc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HYPOMYELINATION-CONGENITAL CATARACT SYNDROME

Medium match PEROXISOME BIOGENESIS DISORDER 14B; PEX14B


PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy (Ebberink et al., 2012), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., Kelley et al., 1986; Poll-The et al., 1987). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported.Thoms and Gartner (2012) classified the disorder described by Ebberink et al. (2012) in their patient as a mild 'Zellweger syndrome (OMIM ) spectrum' (ZSS) disorder. See PBD1B (OMIM ) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B (OMIM ) for another atypical peroxisome biogenesis disorder.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 14B; PEX14B

Medium match ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA


Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by Vermeer et al., 2010). Some patients have low levels of coenzyme Q10 (CoQ10) in muscle and may show some clinical improvement with CoQ10 treatment (Balreira et al., 2014).

ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as scar10|autosomal recessive spinocerebellar ataxia type 10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T


Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T Is also known as muscular dystrophy-dystroglycanopathy, limb-girdle, gmppb-related|muscular dystrophy, limb-girdle, autosomal recessive 19|muscular dystrophy, limb-girdle, type 2t|lgmd2t|lgmdr19

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T

Medium match DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME


Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 26


Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 26 Is also known as gm2 synthase deficiency|spg26

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Nystagmus
  • Muscle weakness
  • Cataract


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 26

Top 5 symptoms//phenotypes associated to Cataract and Intellectual disability, mild

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Intellectual disability, mild. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Scoliosis Seizures Short stature Congenital cataract Dysarthria

Rare Symptoms - Less than 30% cases


Dysmetria Blindness Proximal muscle weakness Cognitive impairment Spasticity EMG abnormality Lower limb muscle weakness Lower limb spasticity Polyneuropathy Microcephaly Abnormal cerebellum morphology Intention tremor Sensorineural hearing impairment Intellectual disability, moderate Cerebral cortical atrophy Visual loss Ataxia Pes cavus Generalized hypotonia Motor delay Brisk reflexes Peripheral neuropathy Tremor Babinski sign Dystonia Neck muscle weakness Proximal muscle weakness in upper limbs Axial muscle weakness EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Abnormal glycosylation Distal lower limb muscle weakness Elevated serum creatine phosphokinase Difficulty climbing stairs Leg muscle stiffness Fasciculations Truncal ataxia Horizontal nystagmus Macular degeneration Slurred speech Ankle clonus Progressive gait ataxia Slow saccadic eye movements Saccadic smooth pursuit Dysmetric saccades Hypermetric saccades Limb-girdle muscular dystrophy Downbeat nystagmus Abnormal enzyme/coenzyme activity Diplopia Tortuosity of conjunctival vessels Muscular hypotonia Cardiomyopathy Muscular dystrophy Muscle cramps Exercise intolerance Easy fatigability Respiratory insufficiency Hypertelorism Hypoglycosylation of alpha-dystroglycan Paraparesis Difficulty walking Spastic paraplegia Paraplegia Falls Distal amyotrophy Dyskinesia Abnormality of extrapyramidal motor function Frequent falls Spastic gait Sensorimotor neuropathy Spastic paraparesis Gait disturbance Abnormality of the urinary system Premature ovarian insufficiency Toe walking Emotional lability Impaired vibratory sensation Urinary urgency Decreased serum testosterone level Pseudobulbar paralysis Impaired vibration sensation at ankles Hyperintensity of cerebral white matter on MRI Hyporeflexia Skeletal muscle atrophy Distal upper limb muscle weakness Cleft lip Dilatation of the ventricular cavity Fatigable weakness of bulbar muscles Broad-based gait Cleft palate Dysphagia Abnormality of the skeletal system Kyphosis Immunodeficiency High forehead Kyphoscoliosis Mental deterioration Externally rotated hips Small for gestational age Micromelia Oral cleft Cleft upper lip Neurodegeneration Macroglossia Generalized dystonia Mild global developmental delay Hypoplastic scapulae Bulbar signs Achalasia Limb ataxia Photophobia Generalized-onset seizure Posterior subcapsular cataract Abnormality of the eye Nyctalopia Retinal degeneration Hyperammonemia Glucose intolerance Chorioretinal atrophy Subcapsular cataract Retinal atrophy Muscle fiber atrophy Abnormality of metabolism/homeostasis Chorioretinal degeneration Hyperlysinuria Ornithinuria Hyperornithinemia Growth delay Failure to thrive Flexion contracture Delayed skeletal maturation EEG abnormality Myopia Delayed puberty Ventricular septal defect Agenesis of corpus callosum Abnormality of movement Progressive spastic paraplegia Hand tremor Spastic dysarthria Abnormal myelination Aplasia/Hypoplasia of the cerebellar vermis Brachydactyly Abnormality of cardiovascular system morphology Delayed speech and language development Glaucoma Pulmonic stenosis Limitation of joint mobility High myopia Mitral regurgitation Thickened skin Short thumb Aortic valve stenosis Ectopia lentis Arthralgia Ichthyosis Progressive cerebellar ataxia Bilateral sensorineural hearing impairment Truncal titubation Progressive cataract Vomiting Headache Areflexia Dry skin Urinary incontinence Migraine Progressive hearing impairment Cerebral hypomyelination Progressive sensorineural hearing impairment Arnold-Chiari type I malformation Hydrocele testis Ptosis Fatigue Cerebellar atrophy Gait ataxia Retinal detachment Cerebral white matter atrophy Loss of ability to walk Inflammatory abnormality of the skin Developmental regression Psoriasiform dermatitis Erythroderma Blepharitis Immune dysregulation Hypocholesterolemia Decreased LDL cholesterol concentration Feeding difficulties Muscular hypotonia of the trunk Abnormal pyramidal sign Lower limb amyotrophy Poor speech Leukodystrophy CNS hypomyelination Decreased motor nerve conduction velocity Axonal degeneration Axonal loss Onion bulb formation Titubation Motor polyneuropathy Scissor gait



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