Hyperreflexia, and Severe global developmental delay

Diseases related with Hyperreflexia and Severe global developmental delay

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

Top matches:

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

Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.

EPILEPTIC ENCEPHALOPATHY WITH GLOBAL CEREBRAL DEMYELINATION Is also known as aspartate-glutamate carrier 1 deficiency|agc1 deficiency|mitochondrial aspartate-glutamate carrier 1 deficiency|hypomyelination, global cerebral

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY WITH GLOBAL CEREBRAL DEMYELINATION

Lissencephaly-6 is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6

Other less relevant matches:

MISSBC is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, early-onset seizures, and severely delayed or even absent psychomotor development with profound intellectual disability and spasticity or dystonia. Brain imaging shows midbrain dysplasia and intracerebral calcifications (summary by Aran et al., 2016).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS; MISSBC

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; MRD9

Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.

GAMMA-AMINOBUTYRIC ACID TRANSAMINASE DEFICIENCY Is also known as gaba transaminase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hyperreflexia
  • Downslanted palpebral fissures


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAMMA-AMINOBUTYRIC ACID TRANSAMINASE DEFICIENCY

Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by Vogt et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: MESH OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 3; AGS3

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LOPES-MACIEL-RODAN SYNDROME; LOMARS

GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.

GM2 GANGLIOSIDOSIS, AB VARIANT Is also known as tay-sachs disease, ab variant|ab variant gm2-gangliosidosis|hexosaminidase activator deficiency|gm2 activator deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GM2 GANGLIOSIDOSIS, AB VARIANT

Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ). Genetic Heterogeneity of Pontocerebellar Hypoplasia Type 2PCH2B (OMIM ) is caused by mutation in the TSEN2 gene (OMIM ) on chromosome 3p25, and PCH2C (OMIM ) is caused by mutation in the TSEN34 gene (OMIM ) on chromosome 19q13. PCH2D (OMIM ) is caused by mutation in the SEPSECS gene (OMIM ) on chromosome 4p15. PCH2E (OMIM ) is caused by mutation in the VPS53 gene (OMIM ) on chromosome 17p13. PCH2F (OMIM ) is caused by mutation in the TSEN15 gene (OMIM ) on chromosome 1q25. The TSEN2 and TSEN34 genes encode catalytic subunits of the tRNA splicing endonuclease, whereas the TSEN54 gene encodes a noncatalytic subunit. The SEPSECS gene is also involved in tRNA processing.

PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A Is also known as pch2|volendam neurodegenerative disease|pontocerebellar hypoplasia with progressive cerebral atrophy

Related symptoms:

  • Seizures
  • Microcephaly
  • Failure to thrive
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A

Top 5 symptoms//phenotypes associated to Hyperreflexia and Severe global developmental delay

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Muscular hypotonia of the trunk Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Severe global developmental delay. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Absent speech Cerebral atrophy Microcephaly Hypertonia Intellectual disability Intellectual disability, severe Visual impairment Encephalopathy Poor head control Myoclonus Hypoplasia of the corpus callosum Tetraparesis Spastic tetraparesis Chorea Progressive microcephaly

Rare Symptoms - Less than 30% cases

Aspiration Nystagmus Flexion contracture Cerebral calcification Generalized myoclonic seizures Optic atrophy Cerebellar hypoplasia Cerebellar atrophy Cerebral cortical atrophy Failure to thrive Leukodystrophy Feeding difficulties Abnormal pyramidal sign Developmental regression Irritability Abnormality of the cerebral white matter Dysphagia Hypsarrhythmia Restlessness Motor delay Delayed myelination Severe muscular hypotonia Athetosis Agenesis of corpus callosum Cognitive impairment Intellectual disability, profound Inability to walk Dementia Ataxia Abnormality of the periventricular white matter Ankle clonus Impaired smooth pursuit Focal impaired awareness seizure High myopia Bruxism Caudate atrophy Central hypotonia Punctate periventricular T2 hyperintense foci Bradykinesia Focal-onset seizure Hypoplasia of the pons Short foot Small hand Unsteady gait Poor speech Extrapyramidal dyskinesia Hypoplasia of the ventral pons Kyphosis Tremor Myopia Short stature Blindness Muscle weakness Exaggerated startle response Infantile axial hypotonia Abnormal involuntary eye movements Cherry red spot of the macula Abnormal fear/anxiety-related behavior GM2-ganglioside accumulation Hyperacusis Pseudobulbar signs Polyhydramnios Feeding difficulties in infancy Progressive spastic quadriplegia Scoliosis Inappropriate behavior Dyskinesia Primitive reflex Muscular hypotonia Loss of speech Limb dystonia Apathy Neurodegeneration Gliosis Paralysis Cerebellar vermis hypoplasia Clonus Poor suck Postnatal growth retardation Anxiety Opisthotonus Glabellar reflex Pain Lethargy CSF lymphocytic pleiocytosis Heterotopia Severe vision loss Basal ganglia calcification Brisk reflexes Postnatal microcephaly Spastic tetraplegia Tetraplegia Generalized tonic-clonic seizures Dilation of lateral ventricles Limb hypertonia Partial agenesis of the corpus callosum Cortical gyral simplification Lissencephaly Pachygyria Delayed speech and language development Sloping forehead Polymicrogyria Ventriculomegaly Abnormal facial shape Cerebral hypomyelination Poor eye contact CNS hypomyelination Leukoencephalopathy Generalized-onset seizure Epileptic encephalopathy Apnea Abnormality of extrapyramidal motor function Increased serum lactate Congenital microcephaly Peripheral neuropathy Lymphocytosis Choreoathetosis Hemiplegia Muscle stiffness Pruritus Elevated hepatic transaminase Hepatosplenomegaly Thrombocytopenia Fever High-pitched cry Multifocal epileptiform discharges Posterior fossa cyst Abnormal cortical gyration Tall stature Esotropia Talipes equinovarus Abnormality of movement EEG abnormality Retrognathia Respiratory distress Downslanted palpebral fissures Progressive spastic paraparesis Optic neuropathy Cerebellar vermis atrophy Spastic paraparesis Paraparesis Cerebral visual impairment Peripheral axonal neuropathy Babinski sign Cerebellar hemisphere hypoplasia


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