Nystagmus, and Polymicrogyria

Diseases related with Nystagmus and Polymicrogyria

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

Top matches:

Autosomal recessive bilateral perisylvian polymicrogyria is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability (Bae et al., 2014).

POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR Is also known as pmgr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Nystagmus
  • Polymicrogyria
  • Esotropia


SOURCES: OMIM MENDELIAN

More info about POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by Huppke 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
  • Nystagmus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 24; JBTS24

Other less relevant matches:

Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.

BILATERAL FRONTOPARIETAL POLYMICROGYRIA Is also known as cerebellar ataxia with neuronal migration defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BILATERAL FRONTOPARIETAL POLYMICROGYRIA

Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4 Is also known as coxpd4

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4

Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved (summary by Poirier et al., 2010).Mutation in the TUBB3 gene can also cause congenital fibrosis of extraocular muscles-3A (CFEOM3A ), a milder and somewhat different neurologic phenotype. Genetic Heterogeneity of Complex Cortical Dysplasia With Other Brain MalformationsSee also CDCBM2 (OMIM ), caused by mutation in the KIF5C gene (OMIM ) on chromosome 2q23; CDCBM3 (OMIM ), caused by mutation in the KIF2A gene (OMIM ) on chromosome 5q12; CDCBM4 (OMIM ), caused by mutation in the TUBG1 gene (OMIM ) on chromosome 17q21; CDCBM5 (OMIM ), caused by mutation in the TUBB2A gene (OMIM ) on chromosome 6p25; CDCBM6 (OMIM ), caused by mutation in the TUBB gene (OMIM ) on chromosome 6p21; CDCBM7 (OMIM ), caused by mutation in the TUBB2B gene (OMIM ) on chromosome 6p25; and CDCBM8 (OMIM ), caused by mutation in the TUBA8 gene (OMIM ) on chromosome 22q11.See also lissencephaly (e.g., LIS1, {607432}), which shows overlapping features and may result from mutation in tubulin genes.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CORTICAL DYSGENESIS WITH PONTOCEREBELLAR HYPOPLASIA DUE TO TUBB3 MUTATION

Autosomal dominant mental retardation-42 is a neurodevelopmental disorder characterized by global developmental delay and intellectual disability. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by Petrovski et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 8 (CG8, equivalent to CGA) have mutations in the PEX26 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Cataract
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010).The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD ), which is caused by mutation in the PLP1 gene (OMIM ). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION

Top 5 symptoms//phenotypes associated to Nystagmus and Polymicrogyria

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Nystagmus and Polymicrogyria. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Cerebellar hypoplasia Strabismus Hypertonia Muscular hypotonia of the trunk Dysmetria Esotropia Visual impairment Ataxia

Rare Symptoms - Less than 30% cases

Flexion contracture Intellectual disability, moderate Pachygyria EEG abnormality Intellectual disability, severe Failure to thrive High palate Lissencephaly Leukodystrophy Hypoplasia of the brainstem Ankle clonus Growth delay Hepatomegaly Intrauterine growth retardation Talipes Feeding difficulties Premature birth Cerebral atrophy Abnormal pyramidal sign Hypsarrhythmia Talipes equinovarus Abnormal cerebellum morphology Postaxial polydactyly Molar tooth sign on MRI Hyperreflexia Abnormal facial shape Polydactyly Hypertelorism Perisylvian polymicrogyria Absent speech Progressive flexion contractures Delayed speech and language development Micrognathia Sudanophilic leukodystrophy Scoliosis Short stature Rotary nystagmus Generalized neonatal hypotonia Progressive spastic paraparesis Cardiorespiratory arrest Epiphyseal stippling Bilateral talipes equinovarus Flat occiput Rapid neurologic deterioration Impaired smooth pursuit Severe muscular hypotonia Flat face Jaundice Cerebral visual impairment Posteriorly rotated ears Limb hypertonia Long philtrum Projectile vomiting Low-set ears Cataract High forehead Progressive neurologic deterioration Cerebellar atrophy Kyphoscoliosis Paraparesis Tetraparesis Neuronal loss in central nervous system Focal-onset seizure Brain atrophy Gliosis Spastic paraparesis Arthrogryposis multiplex congenita Severe global developmental delay Spastic tetraparesis Rigidity Delayed myelination Coarse facial features Myoclonus Proteinuria Dystonia CNS hypomyelination Vomiting Global brain atrophy Decreased muscle mass Minimal change glomerulonephritis Focal segmental glomerulosclerosis Glomerulosclerosis Nephrotic syndrome Narrow forehead Severe failure to thrive Corpus callosum atrophy Stage 5 chronic kidney disease Clonus Arachnodactyly Abnormality of brain morphology Attention deficit hyperactivity disorder Abnormality of eye movement Congenital muscular dystrophy Truncal ataxia Exotropia Broad-based gait Muscular dystrophy Babinski sign Ventriculomegaly Motor delay Agenesis of cerebellar vermis Abnormality of digit Mutism Encephalocele Postaxial hand polydactyly Hypermetropia Nonprogressive cerebellar ataxia Abnormality of the eye Gait disturbance Elongated superior cerebellar peduncle Large for gestational age Oculomotor apraxia Tall stature Cerebellar vermis hypoplasia Apraxia Intellectual disability, mild Frontal bossing Macrocephaly Dysarthria Depressed nasal bridge Language impairment Type II lissencephaly Cerebral dysmyelination Autistic behavior Agenesis of corpus callosum Hydronephrosis Autism Hyperactivity Cleft palate Congenital fibrosis of extraocular muscles Cortical dysplasia Spastic diplegia Congenital contracture Optic nerve hypoplasia External ophthalmoplegia Tetraplegia Polyneuropathy Ophthalmoplegia Hypoplasia of the corpus callosum Frontoparietal polymicrogyria Progressive encephalopathy Opisthotonus Hyperammonemia Increased serum lactate Metabolic acidosis Hepatic failure Lactic acidosis Developmental regression Neonatal hypotonia Acidosis Respiratory failure Encephalopathy Respiratory distress Polymicrogyria, anterior to posterior gradient Diffuse cerebral sclerosis


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