Intellectual disability, and Abnormality of the cerebral white matter

Diseases related with Intellectual disability and Abnormality of the cerebral white matter

In the following list you will find some of the most common rare diseases related to Intellectual disability and Abnormality of the cerebral white matter that can help you solving undiagnosed cases.

Top matches:

Autosomal recessive spastic paraplegia type 59 is a very rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 59 Is also known as spg59

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Talipes equinovarus
  • Spastic paraplegia
  • Abnormality of the cerebral white matter


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 59

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

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 6; SCKL6

Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.

DIHYDROPTERIDINE REDUCTASE DEFICIENCY Is also known as hyperphenylalaninemia due to dihydropteridine reductase deficiency|pku type 2|phenylketonuria type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIHYDROPTERIDINE REDUCTASE DEFICIENCY

Mirror movements are contralateral involuntary movements that mirror voluntary ones. Whereas mirror movements are occasionally found in normal young children, persistence beyond the age of 10 years is abnormal. Congenital mirror movements tend to persist throughout adulthood and tend to occur more commonly in the upper extremities (summary by Sharafaddinzadeh et al., 2008 and Srour et al., 2010). Some patients with DCC mutations have agenesis of the corpus callosum (Marsh et al., 2017). Genetic Heterogeneity of Mirror MovementsSee also MRMV2 (OMIM ), caused by mutation in the RAD51 gene (OMIM ) on chromosome 15q15, and MRMV3 (OMIM ), caused by mutation in the DNAL4 gene (OMIM ) on chromosome 22q13.

MIRROR MOVEMENTS 1; MRMV1 Is also known as mirror movements 1 and/or agenesis of the corpus callosum|bimanual synergia|mirror movements, congenital

Related symptoms:

  • Pain
  • Delayed speech and language development
  • Intellectual disability, mild
  • Agenesis of corpus callosum
  • Abnormality of the nervous system


SOURCES: OMIM MENDELIAN

More info about MIRROR MOVEMENTS 1; MRMV1

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Dysarthria
  • Cerebellar atrophy
  • Cerebral atrophy


SOURCES: OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4

Focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB (Palmini et al., 2004). Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity (summary by Moller et al., 2016).

FOCAL CORTICAL DYSPLASIA, TYPE II; FCORD2 Is also known as focal cortical dysplasia of taylor|cortical dysplasia of taylor|cdt|fcdt|fcd2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Intellectual disability, severe
  • EEG abnormality


SOURCES: ORPHANET OMIM MENDELIAN

More info about FOCAL CORTICAL DYSPLASIA, TYPE II; FCORD2

Autosomal dominant remitting MLC2B is characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white matter abnormalities on brain MRI that improve with age. As children, some patients have mild residual hypotonia or clumsiness, but otherwise have no residual motor abnormalities. About 40% of patients have mental retardation (summary by van der Knaap et al., 2010 and Lopez-Hernandez et al., 2011).Homozygous or compound heterozygous mutations in the HEPACAM gene can cause a more severe and progressive disorder associated with ataxia, spasticity, and mental retardation (MLC2A ).For a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Spasticity
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION; MLC2B

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 45; MRD45

Top 5 symptoms//phenotypes associated to Intellectual disability and Abnormality of the cerebral white matter

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Abnormality of the cerebral white matter. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Cerebellar atrophy Focal-onset seizure Focal impaired awareness seizure Clumsiness Motor delay Generalized hypotonia Abnormality of the nervous system Spasticity Megalencephaly Generalized tonic-clonic seizures with focal onset EEG abnormality Generalized tonic-clonic seizures Generalized myoclonic seizures Memory impairment Hemiparesis Heterotopia Poor speech Attention deficit hyperactivity disorder Cortical dysplasia Astrocytosis Developmental regression Hemimegalencephaly Leukoencephalopathy Hyperactivity Focal white matter lesions Behavioral abnormality Diffuse swelling of cerebral white matter Focal aware seizure Focal cortical dysplasia type II Cognitive impairment Diffuse white matter abnormalities Macrocephaly Autism Intellectual disability, severe Dysarthria Corpus callosum atrophy Hypogonadism Talipes equinovarus Spastic paraplegia Abnormal cerebellum morphology Lower limb spasticity Spastic gait Clonus Lower limb hyperreflexia Limb hypertonia Myopia Tremor Hypoplasia of the corpus callosum Abnormality of the dentition Leukodystrophy Truncal ataxia CNS hypomyelination Short stature Dysphagia Pain Intellectual disability, mild Agenesis of corpus callosum Involuntary movements Partial agenesis of the corpus callosum Bimanual synkinesia Nystagmus Cerebral atrophy Cerebellar hypoplasia Inability to walk Absence seizures


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