Delayed speech and language development, and Abnormal cerebellum morphology

Diseases related with Delayed speech and language development and Abnormal cerebellum morphology

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


Top matches:

Low match CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES; CADEDS

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cerebellar atrophy
  • Generalized myoclonic seizures


SOURCES: OMIM

More info about CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES; CADEDS

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY; MRT34

MRT34 is an autosomal recessive neurologic disorder characterized by mild to moderate intellectual disability and megalencephaly or enlarged head circumference. Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures (summary by Di Donato et al., 2016).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development


SOURCES: UMLS MONDO OMIM

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY; MRT34

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15 Is also known as salih ataxia;autosomal recessive spinocerebellar ataxia type 15; scar15; salih ataxia

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus


SOURCES: DOID MONDO UMLS OMIM ORPHANET

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15

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Other less relevant matches:

Low match GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9

Generalized epilepsy with febrile seizures plus-9 is an autosomal dominant neurologic disorder characterized by onset of febrile and/or afebrile seizures in early childhood, usually before age 3 years. Seizure types are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence. Most patients have remission of seizures later in childhood with no residual neurologic deficits, but rare patients may show mild developmental delay or mild intellectual disabilities (summary by Schubert et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9 Is also known as gefs+, type 9;gefs+9

Related symptoms:

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


SOURCES: MONDO UMLS OMIM

More info about GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9

Low match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; CDCBM6

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM MONDO UMLS DOID

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; CDCBM6

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24

Related symptoms:

  • Autosomal recessive inheritance
  • Ataxia
  • Growth delay
  • Nystagmus
  • Cataract


SOURCES: UMLS MONDO OMIM

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24

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 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53

Autosomal recessive mental retardation-53 is a neurodevelopmental disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar hypoplasia and ataxia. MRT53 is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Makrythanasis et al., 2016).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53 Is also known as glycosylphosphatidylinositol biosynthesis defect 13;gpibd13

Related symptoms:

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


SOURCES: OMIM UMLS MONDO

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37

Early infantile epileptic encephalopathy-37 is an autosomal recessive severe epileptic-dyskinetic disorder characterized by onset of intractable seizures or abnormal movements in the first years of life. Affected individuals show global developmental delay and/or developmental regression after onset of seizures. Patients also show a hyperkinetic movement disorder with choreoathetosis, spasticity, and rigidity. The individuals are severely affected, with mental retardation, absent speech, and impaired volitional movements (summary by Madeo et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS MONDO OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14

mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14 Is also known as cerebellar ataxia, autosomal recessive, spectrin-associated, 1;sparca1;ataxie spinocérébelleuse à début infantile avec retard psychomoteur; autosomal recessive spinocerebellar ataxia type 14; infantile-onset spinocerebellar ataxia-psychomotor delay syndrome; scar14; sparca; sparca1; spectrin-associated autosomal recessive cerebellar ataxia type 1

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET UMLS DOID MONDO OMIM

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Abnormal cerebellum morphology

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Nystagmus Hyperreflexia Autosomal dominant inheritance Gait ataxia Absent speech Dysarthria

Rare Symptoms - Less than 30% cases


Tremor Congenital onset Hypoplasia of the brainstem Cerebellar hypoplasia Abnormality of eye movement Hypoplasia of the corpus callosum Cerebral atrophy Cognitive impairment Spasticity Limb ataxia Cortical dysplasia Unsteady gait Progressive Hyporeflexia Motor delay Abnormality of the eye Dysmetric saccades Rigidity Choreoathetosis Epileptic encephalopathy Abnormality of movement Developmental regression Clonus Myoclonus Infantile onset Encephalopathy Generalized myoclonic seizures Gait disturbance Autism Poor speech EEG with focal spikes Strabismus Intellectual disability, mild Progressive gait ataxia Abnormal pyramidal sign Intellectual disability, profound Slow progression Dysmetria Progressive cerebellar ataxia Sensory impairment Abnormality of extrapyramidal motor function Intention tremor Truncal ataxia Horizontal nystagmus Diplopia Dysdiadochokinesis Slurred speech Hypometric saccades Severe muscular hypotonia Multifocal epileptiform discharges Pachygyria Status epilepticus Microphthalmia Microcephaly Mild global developmental delay Atonic seizures Focal seizures with impairment of consciousness or awareness Absence seizures Generalized tonic-clonic seizures Febrile seizures Milia Pica Intellectual disability, moderate Saccadic smooth pursuit Delayed gross motor development Polymicrogyria Heterotopia Intrauterine growth retardation Arrhythmia Postural instability Infantile spasms Cortical gyral simplification Hypsarrhythmia Cerebellar vermis hypoplasia Lissencephaly Arnold-Chiari malformation Increased head circumference Ventriculomegaly Spastic gait Cataract Growth delay Retinal dysplasia Megalencephaly Jerky ocular pursuit movements



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