Intellectual disability, severe, and Brain atrophy

Diseases related with Intellectual disability, severe and Brain atrophy

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Brain atrophy that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Intellectual disability, severe


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY; NDMSCA

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4

NDHMSR is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. Affected individuals are are usually unable to walk independently and have poor or absent speech. Some patients have intractable seizures (summary by Lemke et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE; NDHMSR

Other less relevant matches:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5

MGCA9 is an autosomal recessive disorder characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria, suggestive of a mitochondrial defect (summary by Shahrour et al., 2017).For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 9 Is also known as 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome|mga9

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 9

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44

MRD6 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity. Additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by Platzer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6

Medium match UROCANIC ACIDURIA

Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.

UROCANIC ACIDURIA Is also known as encephalopathy due to urocanase deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about UROCANIC ACIDURIA

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE MOTOR AND INTELLECTUAL DISABILITIES-SENSORINEURAL DEAFNESS-DYSTONIA SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Brain atrophy

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Cerebral atrophy Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Brain atrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Cerebral cortical atrophy

Common Symptoms - More than 50% cases

Encephalopathy

Uncommon Symptoms - Between 30% and 50% cases

Absent speech Hypoplasia of the corpus callosum Hypsarrhythmia Epileptic encephalopathy Dystonia Spasticity Aggressive behavior Failure to thrive CNS hypomyelination Cerebellar atrophy Tetraplegia

Rare Symptoms - Less than 30% cases

Generalized myoclonic seizures Strabismus Tremor Developmental regression Low-set ears Abnormal facial shape Poor eye contact Optic atrophy Hypertonia Aciduria Generalized tonic-clonic seizures Short stature Status epilepticus Intellectual disability, profound Cerebral hypomyelination Spastic tetraplegia Dyskinesia Generalized tonic-clonic seizures with focal onset Progressive encephalopathy Focal impaired awareness seizure Cerebral visual impairment Choanal atresia Chorea Atrial septal defect EEG abnormality Pes planus Cryptorchidism Polymicrogyria Ataxia Behavioral abnormality Autistic behavior Visual impairment Autism Intellectual disability, moderate Fair hair Nystagmus Abnormality of histidine metabolism Corpus callosum atrophy Episodic fever Abnormality of eye movement Abnormal pyramidal sign Elevated hepatic transaminase Hyperactivity Intrauterine growth retardation Sensorineural hearing impairment Hearing impairment Urocanic aciduria Mood changes Dysarthria Gaze-evoked horizontal nystagmus Action tremor Mask-like facies Blue irides Hyperactive deep tendon reflexes Encephalitis Intellectual disability, progressive Truncal ataxia Broad-based gait Gait ataxia Recurrent infections Opisthotonus Small anterior fontanelle Athetosis Midface retrusion Downslanted palpebral fissures Epicanthus Depressed nasal bridge Neurodevelopmental delay Self-injurious behavior Severe muscular hypotonia Involuntary movements Inability to walk Frontal bossing Neonatal hypotonia EEG with burst suppression Impaired horizontal smooth pursuit Infantile encephalopathy Generalized tonic seizures Epileptic spasms Neurodegeneration Spastic paraplegia Severe global developmental delay Fever Deeply set eye Downturned corners of mouth Postnatal microcephaly Increased serum lactate Delayed myelination Irritability Muscular hypotonia of the trunk Gastroesophageal reflux Feeding difficulties 3-Methylglutaconic aciduria Delayed ability to walk Abnormality of mitochondrial metabolism Clonus Abnormality of the cerebral white matter Everted lower lip vermilion Muscle weakness Atrophy/Degeneration affecting the brainstem Infantile spasms Progressive microcephaly Febrile seizures Coloboma Hyperreflexia High palate Tented upper lip vermilion Cerebral white matter atrophy


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