Intellectual disability, and Coloboma

Diseases related with Intellectual disability and Coloboma

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


Top matches:

Medium match CATARACT 9, MULTIPLE TYPES; CTRCT9


Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear, zonular central nuclear, laminar, lamellar, anterior polar, posterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the CRYAA gene. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. The symbol CATC1 was formerly used for the autosomal recessive form of cataract caused by mutation in the CRYAA gene.

CATARACT 9, MULTIPLE TYPES; CTRCT9 Is also known as cataract, autosomal recessive congenital 1|cataract, autosomal dominant|catc1|cataract 9, multiple types, with or without microcornea

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about CATARACT 9, MULTIPLE TYPES; CTRCT9

Medium match MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9; MCOPCB9


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Visual impairment
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9; MCOPCB9

Medium match ALG2-CDG


ALG2-CDG is a form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.

ALG2-CDG Is also known as congenital disorder of glycosylation type 1i|cdg ii|cdgii|cdg syndrome type ii|mannosyltransferase 2 deficiency|carbohydrate deficient glycoprotein syndrome type ii|cdg1i|congenital disorder of glycosylation type ii|cdg-ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Nystagmus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALG2-CDG

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Other less relevant matches:

Medium match X-LINKED COLOBOMATOUS MICROPHTHALMIA-MICROCEPHALY-INTELLECTUAL DISABILITY-SHORT STATURE SYNDROME


X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.

X-LINKED COLOBOMATOUS MICROPHTHALMIA-MICROCEPHALY-INTELLECTUAL DISABILITY-SHORT STATURE SYNDROME Is also known as maine microphthalmos|colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation|x-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED COLOBOMATOUS MICROPHTHALMIA-MICROCEPHALY-INTELLECTUAL DISABILITY-SHORT STATURE SYNDROME

Medium match VESICOURETERAL REFLUX 3; VUR3


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypoplasia of the corpus callosum
  • Intellectual disability, mild


SOURCES: OMIM MENDELIAN

More info about VESICOURETERAL REFLUX 3; VUR3

Medium match JOUBERT SYNDROME 9; JBTS9


Related symptoms:

  • Intellectual disability
  • Seizures
  • Nystagmus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 9; JBTS9

Medium match UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY


Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY

Medium match KAHRIZI SYNDROME; KHRZ


Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009).See also congenital disorder of glycosylation type Iq (CDG1Q ), an allelic disorder with overlapping features.

KAHRIZI SYNDROME; KHRZ Is also known as mental retardation, cataract, coloboma, and kyphosis, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cataract
  • Flexion contracture
  • Motor delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about KAHRIZI SYNDROME; KHRZ

Medium match JOUBERT SYNDROME 5; JBTS5


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 5; JBTS5

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5

Top 5 symptoms//phenotypes associated to Intellectual disability and Coloboma

Symptoms // Phenotype % cases
Nystagmus Common - Between 50% and 80% cases
Iris coloboma Common - Between 50% and 80% cases
Cataract Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Visual impairment Microphthalmia Generalized hypotonia Microcornea

Rare Symptoms - Less than 30% cases


Hypsarrhythmia CNS hypomyelination Microcephaly Rod-cone dystrophy Ptosis Hypoplasia of the corpus callosum Retinal dystrophy Intellectual disability, severe Cerebellar vermis hypoplasia Hyperreflexia Molar tooth sign on MRI Pendular nystagmus Glaucoma Strabismus Esotropia Retinal detachment Intellectual disability, progressive Renal cyst Stage 5 chronic kidney disease Abnormality of the kidney Muscular hypotonia Ataxia Capillary hemangioma Thoracic kyphosis Infantile spasms Hemangioma Knee flexion contracture Oculomotor apraxia Elbow flexion contracture Thick lower lip vermilion Thick vermilion border Bulbous nose Coarse facial features Kyphosis Atrophy/Degeneration affecting the brainstem Wide nasal bridge Motor delay Flexion contracture Apraxia Nephronophthisis Progressive microcephaly High palate Intellectual disability, profound Spastic tetraplegia Epileptic encephalopathy Febrile seizures Brain atrophy Tetraplegia Encephalopathy Cerebral atrophy Cerebellar atrophy Low-set ears Congenital blindness Thickened superior cerebellar peduncle Neonatal breathing dysregulation Impaired renal concentrating ability Episodic tachypnea Aplasia/Hypoplasia of the cerebellar vermis Renal cortical cysts Tapetoretinal degeneration Agenesis of cerebellar vermis Central apnea Neural tube defect Retinal coloboma Posterior embryotoxon Bilateral cleft lip and palate Anteverted ears Vesicoureteral reflux Scarring Muscular hypotonia of the trunk Hydronephrosis Polyhydramnios Constipation Patent ductus arteriosus Intellectual disability, mild Subcapsular cataract Posterior subcapsular cataract Diastema Chronic constipation Abnormality of the pinna Kyphoscoliosis Nuclear cataract Lamellar cataract Short stature Abnormality of coagulation Progressive cataract Reduced visual acuity Hepatomegaly Cognitive impairment Hydroureter Abnormal facial shape Bilateral cleft lip Visual loss Chorioretinal coloboma Hematuria Oral cleft Cleft upper lip Corneal opacity Cleft lip Optic atrophy Cleft palate Sensorineural hearing impairment Hearing impairment Hepatic fibrosis Ventriculomegaly Encephalocele Congenital cataract Astigmatism Abnormality of eye movement Abnormality of the eye Intellectual disability, moderate Hepatosplenomegaly Amblyopia Agenesis of corpus callosum Hydrocephalus Small anterior fontanelle



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