Global developmental delay, and Ataxia

Diseases related with Global developmental delay and Ataxia

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

Top matches:

Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Myopia


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11

Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME

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:

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


SOURCES: OMIM MENDELIAN

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

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Cerebellar hypoplasia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 27; JBTS27

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43; EIEE43

Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.

GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY Is also known as gamt deficiency|creatine deficiency syndrome due to gamt deficiency|guanidinoacetate methyltransferase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

Joubert syndrome-25 is an autosomal recessive ciliopathy characterized by delayed psychomotor development and oculomotor apraxia associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. The clinical manifestations appear to be confined to the neurologic system, as patients tend not to have additional renal, liver, or limb involvement (summary by Srour et al., 2015)For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Cerebellar hypoplasia
  • Apraxia


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 25; JBTS25

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hyperreflexia
  • Intellectual disability, severe


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4

Top 5 symptoms//phenotypes associated to Global developmental delay and Ataxia

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Cerebellar hypoplasia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Hyperreflexia Hyperactivity Molar tooth sign on MRI Oculomotor apraxia Cognitive impairment Absence seizures Febrile seizures Generalized tonic-clonic seizures Delayed speech and language development Intellectual disability, severe Apraxia Cerebellar atrophy Microcephaly Strabismus Dystonia Myoclonus Autistic behavior Abnormal pyramidal sign Abnormality of movement Intellectual disability, profound Involuntary movements Infantile muscular hypotonia Self-mutilation Progressive extrapyramidal movement disorder Abnormal electroretinogram Absent speech Hypertonia Dementia Muscular hypotonia of the trunk Severe global developmental delay Inability to walk Increased serum lactate Abnormality of extrapyramidal motor function Athetosis Restlessness Muscle weakness Pes planus Aggressive behavior Behavioral abnormality Myopia Spasticity Hypogonadism Congenital hip dislocation Oligodontia Short stature CNS hypomyelination Leukodystrophy Status epilepticus Abnormality of the nervous system Focal impaired awareness seizure Atonic seizures Mild global developmental delay Dysmetria Growth delay Truncal ataxia Delayed ability to walk Abnormality of eye movement Abnormality of the dentition Hypoplasia of the corpus callosum Encephalopathy Tremor Dyskinesia Epileptic encephalopathy Hypsarrhythmia Muscular hypotonia Intellectual disability, moderate


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