Delayed speech and language development, and Arrhythmia

Diseases related with Delayed speech and language development and Arrhythmia

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Arrhythmia that can help you solving undiagnosed cases.


Top matches:

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K Is also known as cmt2k

Related symptoms:

  • Motor delay
  • Skeletal muscle atrophy
  • Gait disturbance
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: ORPHANET SCTID

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

Low match PERIVENTRICULAR NODULAR HETEROTOPIA 6; PVNH6

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Strabismus
  • Delayed speech and language development


SOURCES: MONDO UMLS OMIM

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 6; PVNH6

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Motor delay


SOURCES: OMIM MONDO GARD UMLS

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26

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Other less relevant matches:

Low match LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA; LADCI

LADCI is an autosomal recessive neurodevelopmental disorder characterized by severe expressive and receptive language delay apparent from early childhood. Affected individuals have additional developmental or behavioral abnormalities, including attention deficit, hyperactivity, or mild intellectual disability. Some patients develop cardiac arrhythmias reminiscent of sick sinus syndrome (summary by Lodder et al., 2016 and Shamseldin et al., 2016).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS MONDO OMIM

More info about LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA; LADCI

Low match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ventriculomegaly


SOURCES: UMLS OMIM MONDO DOID

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Feeding difficulties


SOURCES: OMIM UMLS MONDO

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46

Related symptoms:

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


SOURCES: UMLS MONDO DOID OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46

Low match INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA; IDDCA

Intellectual developmental disorder with cardiac arrhythmia is an autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux (summary by Lodder et al., 2016).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO OMIM UMLS

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA; IDDCA

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33; EIEE33

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MONDO UMLS OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33; EIEE33

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17

Early infantile epileptic encephalopathy-17 is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements (summary by Nakamura et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: GARD UMLS MONDO OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Arrhythmia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Hypsarrhythmia Common - Between 50% and 80% cases
Absent speech Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Arrhythmia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Autosomal dominant inheritance

Uncommon Symptoms - Between 30% and 50% cases


Epileptic encephalopathy Encephalopathy Intellectual disability Motor delay

Rare Symptoms - Less than 30% cases


Bradycardia Multifocal epileptiform discharges Sick sinus syndrome Microcephaly Hypoplasia of the corpus callosum Cognitive impairment Infantile onset Infantile spasms Cerebral atrophy Autosomal recessive inheritance Nystagmus Involuntary movements Gait ataxia Absence seizures Atonic seizures Spasticity Retinal degeneration Muscular hypotonia of the trunk Bruxism Neonatal hypotonia Abnormal electroretinogram Patent foramen ovale Aggressive behavior Generalized tonic-clonic seizures Unsteady gait Postnatal microcephaly Incoordination Dystonia EEG abnormality Chorea Delayed myelination Focal seizures Athetosis Stereotypy Cerebellar vermis hypoplasia Generalized myoclonic seizures Hyperactivity Gait disturbance Proximal muscle weakness Distal muscle weakness Distal sensory impairment Peripheral demyelination Decreased nerve conduction velocity Hand muscle atrophy Strabismus Heterotopia Agitation Intellectual disability, mild Attention deficit hyperactivity disorder Death in infancy Keratoconus Sinus bradycardia Receptive language delay Ventriculomegaly Skeletal muscle atrophy Hypoplasia of the brainstem Cortical dysplasia Cortical gyral simplification Feeding difficulties Respiratory insufficiency Respiratory distress Generalized tonic seizures



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