Intellectual disability, and Dilatation

Diseases related with Intellectual disability and Dilatation

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

Top matches:

DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery (summary by de Kok et al., 1995 and Song et al., 2010).See also choroideremia, deafness, and mental retardation (OMIM ), a contiguous gene deletion syndrome involving the POU3F4 and CHM (OMIM ) genes on Xq21; isolated choroideremia (OMIM ) is caused by mutation in the CHM gene.

DEAFNESS, X-LINKED 2; DFNX2 Is also known as deafness 3, conductive, with stapes fixation|sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear|perilymphatic gusher-deafness syndrome|deafness, mixed, with perilymphatic

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Edema


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, X-LINKED 2; DFNX2

Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.

CHUDLEY-MCCULLOUGH SYNDROME Is also known as dfnb82, formerly|deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts|deafness, autosomal recessive 82, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHUDLEY-MCCULLOUGH SYNDROME

MDDGB3 is an autosomal recessive congenital muscular dystrophy with mental retardation and mild brain abnormalities (Clement et al., 2008). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3; MDDGB3 Is also known as muscular dystrophy, congenital, pomgnt1-related

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Strabismus
  • Motor delay
  • Myopia


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3; MDDGB3

Other less relevant matches:

Lissencephaly-4 is an autosomal recessive neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly (head circumference of more than 10 standard deviations (SD) below the mean), and profound mental retardation. It has also been referred to as 'microlissencephaly' (summary by Bakircioglu et al., 2011 and Alkuraya et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

LISSENCEPHALY 4; LIS4 Is also known as lissencephaly 4 with microcephaly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 4; LIS4

Low match SCHIZENCEPHALY

Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness.Schizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see {236100}).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCHIZENCEPHALY

Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.

PENDRED SYNDROME Is also known as thyroid hormonogenesis, genetic defect in, 2b|goiter-deafness syndrome|deafness with goiter|tdh2b|hypothyroidism, congenital, due to dyshormonogenesis, 2b|thyroid dyshormonogenesis 2b

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Respiratory insufficiency


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PENDRED SYNDROME

Congenital hydrocephalus-1 is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012).Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (OMIM ), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (OMIM ) and in Hurler disease (OMIM ). Genetic Heterogeneity of Congenital HydrocephalusSee also HYC2 (OMIM ), caused by mutation in the MPDZ gene (OMIM ) on chromosome 9p23, and HYC3 (OMIM ), caused by mutation in the WDR81 gene (OMIM ) on chromosome 17p13.An X-linked form of congenital hydrocephalus (HSAS, HYCX; {307000}) is caused by mutation in the L1CAM gene on (OMIM ) on chromosome Xq28.

HYDROCEPHALUS, CONGENITAL, 1; HYC1 Is also known as hydrocephaly|hydrocephalus, nonsyndromic, autosomal recessive 1, formerly|ventriculomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Macrocephaly
  • Ventriculomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 1; HYC1

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LISSENCEPHALY 3; LIS3

Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).

BETA-UREIDOPROPIONASE DEFICIENCY Is also known as beta-alanine synthase deficiency

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BETA-UREIDOPROPIONASE DEFICIENCY

Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.

NEUROLOGICAL CONDITIONS ASSOCIATED WITH AMINOACYLASE 1 DEFICIENCY Is also known as n-acyl-l-amino acid amidohydrolase deficiency|acy1d

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEUROLOGICAL CONDITIONS ASSOCIATED WITH AMINOACYLASE 1 DEFICIENCY

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ventriculomegaly Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Cerebellar hypoplasia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Agenesis of corpus callosum Hypertonia Motor delay Generalized hypotonia Sensorineural hearing impairment Hearing impairment Strabismus Polymicrogyria Blindness Hydrocephalus Intellectual disability, severe

Rare Symptoms - Less than 30% cases

Macrocephaly Inability to walk Spastic tetraplegia Hemiparesis Aplasia/Hypoplasia of the corpus callosum Hypoplasia of the corpus callosum Congenital microcephaly Muscular hypotonia Lissencephaly Intellectual disability, profound Ataxia Muscular hypotonia of the trunk Delayed CNS myelination Neurological speech impairment Tetraplegia Cerebellar dysplasia Vomiting Intellectual disability, mild Colpocephaly Bilateral sensorineural hearing impairment Heterotopia Congenital sensorineural hearing impairment Cortical dysplasia Cerebellar vermis hypoplasia Hypoplasia of the brainstem Headache Prominent forehead Mental deterioration Cerebral visual impairment Pachygyria Focal-onset seizure Arnold-Chiari malformation Abnormal pyramidal sign Irritability Stroke Spontaneous abortion Absent speech Acute encephalopathy Feeding difficulties Intraventricular hemorrhage Hydranencephaly Dilated fourth ventricle Aqueductal stenosis Communicating hydrocephalus Normal pressure hydrocephalus Scoliosis Abnormality of neuronal migration Hemiplegia Intellectual disability, moderate Apnea Wide nose Generalized muscle weakness Abnormality of the nervous system Hyperactivity Encephalopathy Cerebral atrophy Cerebellar atrophy Wide nasal bridge Delayed speech and language development Febrile seizures Absence seizures Muscle weakness Hemianopia Hypertelorism Exstrophy Bladder exstrophy Bifid scrotum Status epilepticus Neoplasm Anal atresia Opisthotonus Neonatal hypotonia Dystonia Limb hypertonia Agyria Syringomyelia Esodeviation Hypsarrhythmia Nephropathy Thyroid nodule Prelingual sensorineural hearing impairment Growth delay Short stature Cerebellar cyst Hypoplasia of the pons Congenital muscular dystrophy Muscular dystrophy Elevated serum creatine phosphokinase Optic atrophy Myopia Large foramen magnum Gray matter heterotopias Dysplastic corpus callosum Arachnoid cyst Aspiration Severe sensorineural hearing impairment Partial agenesis of the corpus callosum Abnormal facial shape Dilatated internal auditory canal Stapes ankylosis Choroideremia Bilateral conductive hearing impairment Severe hearing impairment Progressive sensorineural hearing impairment Abnormality of the ear Mixed hearing impairment Conductive hearing impairment Edema Brain atrophy Cortical gyral simplification Enlarged vestibular aqueduct Vestibular dysfunction Euthyroid goiter Unilateral deafness Compensated hypothyroidism Hypoplasia of the cochlea Cochlear malformation Abnormality of the inner ear Metabolic alkalosis Thyroid carcinoma Alkalosis Tracheal stenosis Hyperparathyroidism Abnormality of the thyroid gland Goiter Hypoplasia of the frontal lobes Progressive hearing impairment Vertigo Carcinoma Hypothyroidism Abnormality of metabolism/homeostasis Respiratory insufficiency Schizencephaly Porencephalic cyst Holoprosencephaly Paralysis EEG abnormality Cerebral cortical atrophy Spasticity Aplasia/Hypoplasia of the cerebellar vermis


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