Hearing impairment, and Delayed myelination

Diseases related with Hearing impairment and Delayed myelination

In the following list you will find some of the most common rare diseases related to Hearing impairment and Delayed myelination that can help you solving undiagnosed cases.

Top matches:

For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (OMIM ).CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age ({36,39:Lupski et al., 1991, 1992}).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A Is also known as hereditary motor and sensory neuropathy ia|hmsn ia|charcot-marie-tooth neuropathy, type 1a|hmsn1a|charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

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

Neonatal intractable myoclonus is a severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth. Affected infants have intermittent apnea, abnormal eye movements, pallor of the optic nerve, and lack of developmental progress. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy. There is phenotypic and biochemical evidence of mitochondrial dysfunction (summary by Duis et al., 2016).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about MYOCLONUS, INTRACTABLE, NEONATAL; NEIMY

Other less relevant matches:

D-glyceric aciduria is a metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.

D-GLYCERIC ACIDURIA Is also known as d-glyceric acidemia|d-glycerate kinase deficiency|glycerate kinase deficiency

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about D-GLYCERIC ACIDURIA

NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL

Hypomyelinating leukodystrophy-12 is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as vps11-related autosomal recessive hypomyelinating leukoencephalopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME Is also known as spastic paraplegia-psychomotor retardation-seizures syndrome|spprs syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME

Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Top 5 symptoms//phenotypes associated to Hearing impairment and Delayed myelination

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hearing impairment and Delayed myelination. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Cerebral atrophy Hypertonia Cerebellar atrophy Muscular hypotonia of the trunk Abnormal facial shape Absent speech Strabismus Inability to walk Feeding difficulties Apnea Growth delay Deeply set eye Spasticity Hypertelorism Anteverted nares Low-set ears Visual impairment Hypoplasia of the corpus callosum Motor delay Nystagmus

Rare Symptoms - Less than 30% cases

Developmental regression Limb hypertonia Opisthotonus Downturned corners of mouth Macrocephaly Febrile seizures Cryptorchidism Scoliosis Delayed CNS myelination Obesity Severe global developmental delay Myoclonus High palate Short stature Constipation Brachydactyly Myopia Dystonia Ventriculomegaly Long philtrum Generalized myoclonic seizures Ataxia Severe failure to thrive Autistic behavior Failure to thrive Developmental stagnation Coarse facial features Chorea Cerebral visual impairment Synophrys Hyperactivity Encephalopathy Muscle weakness Abnormality of the foot Wide nasal bridge Muscular hypotonia Skeletal muscle atrophy Short philtrum Broad distal phalanx of finger Pes cavus Hyporeflexia Depressed nasal bridge Areflexia Autism Anxiety Peripheral neuropathy Pectus carinatum Prominent nasal bridge Broad columella Open mouth Self-injurious behavior Chronic constipation Lumbar scoliosis Asymmetry of the ears Dysarthria Abnormality of the skeletal system Talipes equinovarus Wide nasal base Progressive hearing impairment Congenital hypothyroidism Diabetes mellitus Distal amyotrophy Limb muscle weakness Intellectual disability, mild Short nose Distal muscle weakness Alopecia Rod-cone dystrophy Posteriorly rotated ears Upslanted palpebral fissure Glaucoma Corneal dystrophy Hypothyroidism High forehead Thin upper lip vermilion Kyphoscoliosis Low-set, posteriorly rotated ears Sparse hair Broad nasal tip Short palpebral fissure Broad thumb Kyphosis Spastic paraplegia Difficulty walking Macroglossia Hydrocephalus Cardiomyopathy Hernia Patent ductus arteriosus Retrognathia Umbilical hernia Hypertrophic cardiomyopathy Wide mouth Thin vermilion border Bifid uvula Ventricular septal defect Dandy-Walker malformation Ventricular hypertrophy Small nail Left ventricular hypertrophy Short chin Lissencephaly Failure to thrive in infancy Cutis marmorata Protruding tongue Periorbital fullness Short neck Intrauterine growth retardation Hip dislocation Lower limb spasticity Distal sensory impairment Generalized tonic-clonic seizures Paraplegia Unsteady gait Retinal dystrophy Urinary incontinence Waddling gait Lumbar hyperlordosis Tetraparesis Broad-based gait Fasciculations Cleft palate Progressive spastic paraplegia Overweight Cerebral white matter atrophy Puberty and gonadal disorders Structural foot deformity Exophoria Delayed peripheral myelination Abnormality of the musculature of the lower limbs Absent pubertal growth spurt Focal myoclonic seizures Hypertension Temperature instability Oromotor apraxia Respiratory distress Leukoencephalopathy Abnormality of mitochondrial metabolism Athetosis Segmental peripheral demyelination/remyelination Progressive leukoencephalopathy Demyelinating peripheral neuropathy Hodgkin lymphoma Onion bulb formation Hyperreflexia Intellectual disability, severe Axonal regeneration Cerebral cortical atrophy Acidosis Hypoglycemia Neonatal hypotonia Axonal loss Metabolic acidosis Tetraplegia Aciduria Spastic tetraplegia Hypsarrhythmia Hypopnea Ulnar claw Optic nerve hypoplasia Cold-induced muscle cramps Intellectual disability, moderate Wide nose Dilatation Generalized muscle weakness Vomiting Absence seizures Aplasia/Hypoplasia of the corpus callosum Hemiplegia Syringomyelia Acute encephalopathy Abnormality of eye movement Aplasia/Hypoplasia of the cerebellar vermis Progressive distal muscular atrophy Abnormal nervous system electrophysiology Ptosis Myelin outfoldings Dysphagia Respiratory insufficiency Hypertrophic nerve changes Abnormality of the eye Pallor Aminoaciduria Neonatal respiratory distress Abnormality of the nervous system Focal-onset seizure Split hand Optic atrophy Peripheral demyelination Lymphoma Reduced visual acuity Polyneuropathy Hepatosplenomegaly Sensory neuropathy Poor speech Postnatal microcephaly Low frustration tolerance Leukodystrophy Abnormal autonomic nervous system physiology CNS hypomyelination Focal impaired awareness seizure Multiple joint contractures Abnormality of the periventricular white matter Central hypotonia Neurogenic bladder Cerebral hypomyelination Diffuse white matter abnormalities Flexion contracture Bruxism Poor eye contact Epicanthus Epileptic spasms Decreased number of peripheral myelinated nerve fibers Hyperglycinemia Glutaric aciduria Nonketotic hyperglycinemia Neurofibromas Decreased motor nerve conduction velocity Steppage gait Hammertoe Decreased nerve conduction velocity Delayed gross motor development Delayed ability to walk Sleep apnea Foot dorsiflexor weakness Gait ataxia Pes planus Aggressive behavior Progressive muscle weakness Joint hypermobility Everted lower lip vermilion Tapered finger Involuntary movements Skull asymmetry


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