Intellectual disability, severe, and Parkinsonism

Diseases related with Intellectual disability, severe and Parkinsonism

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

Top matches:

Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.

SPINOCEREBELLAR ATAXIA TYPE 21 Is also known as sca21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Neoplasm


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 21

X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

Other less relevant matches:

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

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

Early infantile epileptic encephalopathy-8 is an X-linked disorder characterized by seizure onset before 2 years of age and severe developmental delay. Some patients have hyperekplexia (summary by Shimojima et al., 2011).For general phenotypic descriptions and discussions of genetic heterogeneity of early infantile epileptic encephalopathy and hyperekplexia, see EIEE1 (OMIM ) and hereditary hyperekplexia (OMIM ), respectively.

HYPEREKPLEXIA-EPILEPSY SYNDROME Is also known as hyperekplexia and epilepsy

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPEREKPLEXIA-EPILEPSY SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LOPES-MACIEL-RODAN SYNDROME; LOMARS

Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.

ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY Is also known as glut1-ds|glucose transport defect, blood-brain barrier|glut-1 deficiency syndrome|de vivo disease|glucose transporter type 1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1 Is also known as schindler disease type 1|naga deficiency type 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.

L-2-HYDROXYGLUTARIC ACIDURIA Is also known as l-2-hga|l-2-hydroxyglutaric acidemia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about L-2-HYDROXYGLUTARIC ACIDURIA

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Dystonia

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of extrapyramidal motor function Delayed speech and language development Abnormal pyramidal sign Muscular hypotonia of the trunk Behavioral abnormality Spasticity Hyperreflexia Hypertonia Myoclonus Absent speech Muscular hypotonia Strabismus Microcephaly Nystagmus Cognitive impairment Encephalopathy Tremor Choreoathetosis Cerebellar atrophy Gait ataxia Babinski sign Chorea Clumsiness Developmental regression

Rare Symptoms - Less than 30% cases

Self-mutilation Athetosis Hearing impairment Scoliosis Growth delay Optic atrophy Language impairment Intellectual disability, progressive Autistic behavior Macrocephaly Postnatal microcephaly Intellectual disability, mild Focal-onset seizure Epileptic encephalopathy Severe global developmental delay Poor speech Absence seizures Involuntary movements Abnormality of movement Tetraparesis Kyphosis Spastic tetraparesis Bruxism Focal impaired awareness seizure Restlessness Apraxia Small hand EEG abnormality Intellectual disability, moderate Cyanosis Abnormality of metabolism/homeostasis Aplasia/Hypoplasia of the cerebellum Dysarthria Hyperactivity Feeding difficulties Pes cavus Aggressive behavior Gait disturbance Ophthalmoplegia Motor delay Difficulty walking Leukoencephalopathy Fatigue Headache Horizontal nystagmus Truncal ataxia Sensory neuropathy Mental deterioration Leukodystrophy Encephalitis Apnea Neuronal loss in central nervous system Abnormality of the eye Paralysis Lethargy Aciduria Caudate atrophy Atrophy/Degeneration affecting the brainstem Central hypotonia Neoplasm of the nervous system L-2-hydroxyglutaric acidemia Pain Myopia Dysphagia Cerebral atrophy L-2-hydroxyglutaric aciduria Ependymoma Unsteady gait Morphological abnormality of the pyramidal tract Ankle clonus Short foot Organic aciduria Bradykinesia High myopia Corpus callosum atrophy Generalized tonic-clonic seizures Dysphasia Global brain atrophy Gliosis Abnormality of brainstem morphology Confusion Paroxysmal lethargy Paroxysmal dystonia Atypical absence seizures Abnormal erythrocyte morphology Extrapyramidal dyskinesia Generalized hyperreflexia Hypoglycorrhachia Cerebral visual impairment Lymphedema Hemiplegia/hemiparesis Muscle weakness Peripheral neuropathy Hepatomegaly Hyperkeratosis Autism Hypertrophic cardiomyopathy Telangiectasia Paresthesia Paroxysmal dyskinesia Central apnea Abnormal cerebellum morphology Status epilepticus Atrial septal defect Vertigo Falls Dyskinesia Telangiectasia of the skin Sleep disturbance Generalized myoclonic seizures Specific learning disability Hemiparesis Generalized amyotrophy Progressive microcephaly Muscle stiffness Sleep apnea Hyperkinesis Incoordination Slurred speech Atonic seizures Drowsiness Paroxysmal involuntary eye movements Spastic gait Exaggerated startle response Broad forehead Malar flattening Midface retrusion Constipation Mandibular prognathia Neonatal hypotonia Feeding difficulties in infancy Irritability Attention deficit hyperactivity disorder Hypermetropia Hypoplasia of the corpus callosum Joint hyperflexibility Long face Joint hypermobility Delayed myelination Open mouth Aganglionic megacolon Tall stature Stereotypy Exotropia Vomiting Ptosis External ophthalmoplegia Impulsivity Neoplasm Hyporeflexia Rigidity Progressive cerebellar ataxia Limb ataxia Diplopia Fasciculations Apathy Postural tremor Akinesia Failure to thrive Resting tremor Cerebellar vermis atrophy Slow saccadic eye movements Cogwheel rigidity Dysgraphia Scanning speech Intermittent microsaccadic pursuits Microsaccadic pursuit Short stature Narrow face Cachexia Polymicrogyria Slender build Psychosis Paraparesis Spastic paraparesis Drooling Progressive spasticity Poor coordination Facial hypotonia Macroorchidism Shuffling gait Excessive salivation Tetraplegia Progressive spastic paraparesis Mania Juvenile cataract Intellectual disability, profound Infantile muscular hypotonia Progressive extrapyramidal movement disorder Dementia Inability to walk Increased serum lactate Spastic tetraplegia Paraplegia Redundant skin Poor hand-eye coordination Mask-like facies Myopathic facies Chronic constipation Speech apraxia Ileus Impaired social interactions Urethral stenosis Duodenal ulcer Abnormality of creatine metabolism Underfolded superior helices Genu valgum Micrognathia Cataract Flexion contracture High palate Short neck Abnormality of the dentition Pneumonia Macrotia Spastic paraplegia Severe demyelination of the white matter


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