Microcephaly, and Absent speech

Diseases related with Microcephaly and Absent speech

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 6; SCKL6

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Absent speech
  • Intellectual disability, moderate


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE; MCPH21

Hypomagnesemia, seizures, and mental retardation is a disorder characterized by onset of seizures associated with low serum magnesium in the first year of life. Affected individuals show variable degrees of delayed psychomotor development (summary by Arjona et al., 2014).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Absent speech


SOURCES: OMIM MENDELIAN

More info about HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION; HOMGSMR

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64; MRT64

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57; MRT57

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Absent speech


SOURCES: OMIM MENDELIAN

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

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:

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


SOURCES: OMIM MENDELIAN

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27; MRT27

Pontocerebellar hypoplasia type 2F is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly and variable neurologic signs and symptoms, including cognitive and motor delay, poor or absent speech, seizures, and spasticity (summary by Breuss et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2F; PCH2F

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7

Top 5 symptoms//phenotypes associated to Microcephaly and Absent speech

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microcephaly and Absent speech. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Aggressive behavior Short stature Hyperreflexia Hypertonia

Rare Symptoms - Less than 30% cases

Hypsarrhythmia Epileptic encephalopathy Encephalopathy Strabismus Focal-onset seizure Inability to walk Muscular hypotonia of the trunk Cerebral cortical atrophy Sloping forehead Intellectual disability, moderate Spasticity Generalized myoclonic seizures Athetosis Generalized tonic seizures Growth delay Depressed nasal bridge Midface retrusion Cortical gyral simplification Delayed myelination Poor speech Ataxia Holoprosencephaly Visual impairment Prominent nose Babinski sign Progressive microcephaly Cleft lip Involuntary movements Neonatal hypotonia Chorea Febrile seizures Delayed speech and language development Hypomagnesemia Feeding difficulties Dysphagia Autism Autistic behavior Polymicrogyria Delayed ability to walk Dyskinesia Unsteady gait Postnatal microcephaly Incoordination Hypoplasia of the corpus callosum Dystonia Cerebral atrophy EEG abnormality Lobar holoprosencephaly


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