Intellectual disability, severe, and Memory impairment

Diseases related with Intellectual disability, severe and Memory impairment

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

Top matches:

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

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Intellectual disability, severe


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33

Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 27 Is also known as sca27|cerebellar ataxia, autosomal dominant, fgf14-related

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 27

Other less relevant matches:

Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.

CLASSIC PHENYLKETONURIA Is also known as classic pku

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PHENYLKETONURIA

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Nonsyndromic mental retardation.

MENTAL RETARDATION, X-LINKED 41; MRX41 Is also known as mental retardation, x-linked 48|mrx48

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 41; MRX41

Related symptoms:

  • Seizures
  • Microcephaly
  • Cognitive impairment
  • Intellectual disability, severe
  • Retrognathia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE; MCPH8

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

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Generalized hypotonia Abnormal facial shape Growth delay Gait ataxia Depressivity Ataxia

Rare Symptoms - Less than 30% cases

Muscular hypotonia Restlessness EEG abnormality Dementia Cataract Hyperreflexia Hypertonia Neurological speech impairment Behavioral abnormality Mental deterioration High forehead Joint hypermobility Aggressive behavior Difficulty walking Pes cavus Gait disturbance Hemiplegia Intellectual disability, moderate Attention deficit hyperactivity disorder Absent speech Nystagmus Dystonia Broad-based gait Short stature Cortical dysplasia Scoliosis Intellectual disability, mild Abnormality of extrapyramidal motor function Hyperactivity Acidosis Lower limb muscle weakness Hip dislocation Macrotia Retinopathy Proteinuria Feeding difficulties in infancy Congenital cataract Paresthesia Lethargy Unsteady gait Malabsorption Smooth philtrum Confusion Arthritis Feeding difficulties Reduced visual acuity Abnormality of toe Biparietal narrowing Striae distensae Scaphocephaly Down-sloping shoulders Distal lower limb amyotrophy Abnormal hair pattern Tics Panhypopituitarism Abdominal obesity Abnormality of earlobe Small earlobe Mood swings Moderately short stature Hearing impairment Weight loss Failure to thrive Muscle weakness Low-set ears Anemia Abnormality of skin pigmentation Visual impairment Hypertension Respiratory insufficiency Hydrocephalus Congestive heart failure Renal insufficiency Thrombocytopenia Cerebral cortical atrophy Retinal degeneration Recurrent urinary tract infections Long face Decreased methylmalonyl-CoA mutase activity Chronic hemolytic anemia Abnormality of macular pigmentation Delirium Urogenital fistula Decreased methylcobalamin Hyperhomocystinemia Decreased adenosylcobalamin Decreased methionine synthase activity Vitamin B12 deficiency Cystathioninuria Hypomethioninemia Diffuse hepatic steatosis Atrophy of the spinal cord Cystathioninemia Thyroglossal cyst Myoclonus Dental crowding Pointed chin Absence seizures Retrognathia Sloping forehead Muscular hypotonia of the trunk Severe global developmental delay Inability to walk Increased serum lactate Methylmalonic acidemia Hemolytic-uremic syndrome Hemolytic anemia Anorexia Nephropathy Hematuria Hepatic steatosis Metabolic acidosis Neutropenia Urinary incontinence Aciduria Pigmentary retinopathy Pancytopenia Psychosis Pulmonary arterial hypertension Abnormality of the musculature Abnormality of retinal pigmentation Right ventricular failure Atherosclerosis Slurred speech Ectopia lentis Apathy Disproportionate tall stature Thromboembolism Megaloblastic anemia Cor pulmonale Methylmalonic aciduria Homocystinuria Myelopathy Gastritis Cerebellar vermis atrophy Macroglossia Truncal obesity Nausea and vomiting Gaze-evoked nystagmus Hand tremor Impaired smooth pursuit Head tremor Orofacial dyskinesia Dysgraphia Dysmetric saccades Paroxysmal dyskinesia Abnormality of ocular smooth pursuit Red-green dyschromatopsia Autism Paraplegia Impaired vibratory sensation Hypopigmentation of the skin Cerebral calcification Eczema Self-injurious behavior Hypopigmentation of hair Lack of skin elasticity Motor deterioration Hyperphenylalaninemia Hypertelorism Micrognathia Cryptorchidism Sensory axonal neuropathy Akinesia Delayed speech and language development Focal cortical dysplasia type II Generalized tonic-clonic seizures Abnormality of the cerebral white matter Focal-onset seizure Hemiparesis Heterotopia Focal impaired awareness seizure Astrocytosis Generalized tonic-clonic seizures with focal onset Hemimegalencephaly Focal white matter lesions Focal aware seizure Delayed skeletal maturation Postural tremor Decreased body weight Amblyopia Chorioretinal degeneration Strabismus Peripheral neuropathy Dysarthria Cerebellar atrophy Dyskinesia Sensory neuropathy Limb ataxia Truncal ataxia High palate Motor delay Cortical gyral simplification Interphalangeal joint contracture of finger Toe syndactyly Delayed puberty Joint hyperflexibility Bulbous nose Polymicrogyria Short palm Small hand Short foot Prominent nose Decreased testicular size Hypoplasia of penis Intention tremor Short philtrum Thick lower lip vermilion Short thumb Gynecomastia Narrow palpebral fissure Sandal gap Acanthosis nigricans Relative macrocephaly Cachexia Cubitus valgus Large hands Open bite Synophrys Camptodactyly of finger Depressed nasal bridge Obesity Epicanthus Brachydactyly Intrauterine growth retardation Skeletal muscle atrophy Macrocephaly Downslanted palpebral fissures Ventriculomegaly Short neck Hypoplasia of the corpus callosum Kyphosis Immunodeficiency Hypospadias Blepharophimosis Inguinal hernia Clinodactyly of the 5th finger Hyperhidrosis Hypogonadism Micropenis Mandibular prognathia Coarse facial features Pes planus Joint laxity Abnormality of the pinna Wide mouth Athetosis


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