Global developmental delay, and Sensorineural hearing impairment

Diseases related with Global developmental delay and Sensorineural hearing impairment

In the following list you will find some of the most common rare diseases related to Global developmental delay and Sensorineural hearing impairment that can help you solving undiagnosed cases.

Top matches:

DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A Is also known as dfnb84|deafness, autosomal recessive 84a, with vestibular dysfunction|deafness, autosomal recessive 84

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Motor delay
  • Vestibular dysfunction


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX26 gene have cells of complementation group 8 (CG8, equivalent to CGA). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 7B; PBD7B

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Motor delay
  • Old-aged sensorineural hearing impairment


SOURCES: MESH OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25

Other less relevant 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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36; COXPD36

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Feeding difficulties
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14

X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4 Is also known as neuropathy, axonal motor-sensory, with deafness and mental retardation|charcot-marie-tooth disease with deafness and mental retardation|cowchock syndrome|nadmr|cmt4x|namsd|charcot-marie-tooth disease, x-linked recessive, 4|cmtx4

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4

Top 5 symptoms//phenotypes associated to Global developmental delay and Sensorineural hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Rare - less than 30% cases
Dilatation Rare - less than 30% cases

Other less frequent symptoms

Patients with Global developmental delay and Sensorineural hearing impairment. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Motor delay Exercise intolerance Apnea Weak cry Neurodevelopmental delay Opisthotonus Retinal degeneration Feeding difficulties in infancy Abnormality of the eye Hypertrophic cardiomyopathy Muscular hypotonia of the trunk Abnormality of mitochondrial metabolism Hypertonia Cardiomyopathy Profound global developmental delay Optic atrophy Aciduria Feeding difficulties Breech presentation Muscle weakness Caesarian section Distal muscle weakness Impaired pain sensation Sensory axonal neuropathy Hammertoe Decreased nerve conduction velocity Sensorimotor neuropathy Sleep disturbance Sensory neuropathy Distal sensory impairment Pes cavus Scoliosis Elevated serum creatine phosphokinase Areflexia Kyphosis Gait disturbance Tremor Peripheral neuropathy Cognitive impairment Hypoglycemia Ataxia Poor speech Low-set ears Upslanted palpebral fissure Abnormality of the ear Abnormal facial shape Seizures Dilatated internal auditory canal Stapes ankylosis Choroideremia Bilateral conductive hearing impairment Severe hearing impairment Progressive sensorineural hearing impairment Mixed hearing impairment Ventriculomegaly Conductive hearing impairment Edema Old-aged sensorineural hearing impairment Decreased liver function Retinal dystrophy Neonatal hypotonia Visual impairment Vestibular dysfunction Macrocephaly Hypoplasia of the corpus callosum Headache Arachnoid cyst Delayed speech and language development Strabismus Large foramen magnum Gray matter heterotopias Dysplastic corpus callosum Prelingual sensorineural hearing impairment Cerebellar dysplasia Colpocephaly Severe sensorineural hearing impairment Hydrocephalus Partial agenesis of the corpus callosum Cortical dysplasia Congenital sensorineural hearing impairment Heterotopia Bilateral sensorineural hearing impairment Polymicrogyria Agenesis of corpus callosum Cerebellar hypoplasia Intellectual disability, mild Motor axonal neuropathy


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