Intellectual disability, and High myopia

Diseases related with Intellectual disability and High myopia

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

Top matches:

The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.

5Q35 MICRODUPLICATION SYNDROME Is also known as dup(5)(q35)|trisomy 5q35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about 5Q35 MICRODUPLICATION SYNDROME

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

High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HIGH MYOPIA-SENSORINEURAL DEAFNESS SYNDROME

Other less relevant matches:

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME Is also known as poretti-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS 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

X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.

X-LINKED RECESSIVE OCULAR ALBINISM Is also known as ocular albinism type 1|ocular albinism, nettleship-falls type|nettleship-falls type ocular albinism|oa1|xloa

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about X-LINKED RECESSIVE OCULAR ALBINISM

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRYPTOPHANEMIA

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LOPES-MACIEL-RODAN SYNDROME; LOMARS

Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.

CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME Is also known as catshl syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability and High myopia

Symptoms // Phenotype % cases
Myopia Very Common - Between 80% and 100% cases
Cataract Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Visual impairment Sensorineural hearing impairment Short stature

Rare Symptoms - Less than 30% cases

Interphalangeal joint contracture of finger Ectopia lentis Scoliosis Camptodactyly of finger Cerebellar cyst Amblyopia Cerebellar vermis hypoplasia Retinal dystrophy Seizures Abnormality of the cerebral white matter Elevated serum creatine phosphokinase Muscular hypotonia Intellectual disability, severe Bilateral sensorineural hearing impairment Glaucoma Absent speech Hearing impairment Retinal atrophy Rod-cone dystrophy Blindness Nyctalopia Behavioral abnormality Iris hypopigmentation Visual loss Microcephaly Holoprosencephaly Intellectual disability, profound Hypersexuality Polymicrogyria Stuttering Cerebral calcification Mood swings Generalized joint laxity Overweight Limited elbow extension Emotional lability Adducted thumb Osteochondroma Skin rash Increased vertebral height Joint laxity Intellectual disability, moderate Poor head control Aggressive behavior Pes planus Arthralgia Tryptophanuria Fever Flexion contracture Leukodystrophy Hypertelorism Lissencephaly Agyria Buphthalmos Congenital muscular dystrophy Abnormality of lower limb joint Depressivity Pain Head-banging Pectus excavatum Small hand Short foot Chorea Camptodactyly Focal-onset seizure Bradykinesia Tetraparesis Craniosynostosis Spastic tetraparesis Focal impaired awareness seizure Ankle clonus Central hypotonia Bruxism High palate Unsteady gait Arachnodactyly Caudate atrophy Dystonia Spasticity Feeding difficulties Tremor Dysphagia Cerebellar atrophy Camptodactyly of toe Kyphosis Poor speech Cerebral atrophy Muscular hypotonia of the trunk Developmental regression Muscular dystrophy Joint contracture of the hand Severe global developmental delay Tall stature Abnormal pyramidal sign Macular hypoplasia Corneal opacity Apraxia Albuminuria Ataxia Muscle weakness Delayed speech and language development Motor delay Abnormality of eye movement Heterotopia Hematuria Oculomotor apraxia Abnormality of the periventricular white matter Abnormally large globe Dilated fourth ventricle Cerebellar dysplasia Retinal thinning Profound hearing impairment Vertigo Ventricular septal defect Constriction of peripheral visual field Growth delay Delayed skeletal maturation Specific learning disability Retinopathy Retinal degeneration Pigmentary retinopathy Scotoma Proteinuria Decreased light- and dark-adapted electroretinogram amplitude Choroideremia Chorioretinal degeneration Mild myopia Cognitive impairment Peripheral neuropathy Conductive hearing impairment Brachydactyly Intellectual disability, mild Respiratory failure Nystagmus-induced head nodding Ocular albinism Pendular nystagmus Abnormal pupil morphology Hypopigmentation of the fundus Abnormal macular morphology Giant melanosomes in melanocytes Depigmented fundus Congenital nystagmus Macrocephaly Ventriculomegaly Hypoplasia of the corpus callosum Hydrocephalus Myopathy Microphthalmia Dilatation Hypoplasia of the fovea Freckling Abnormality of cardiovascular system morphology Photophobia Pulmonic stenosis Limitation of joint mobility Mitral regurgitation Thickened skin Short thumb Aortic valve stenosis Hypermetropia Blurred vision Astigmatism Ichthyosis Abnormality of skin pigmentation Falls Hypopigmentation of the skin Neoplasm of the skin Albinism Broad femoral metaphyses


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