Intellectual disability, severe, and Attention deficit hyperactivity disorder

Diseases related with Intellectual disability, severe and Attention deficit hyperactivity disorder

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


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2


MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2 Is also known as mental retardation, autosomal recessive 2a|mrt2a

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Intellectual disability, severe


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33

High match CLASSIC PHENYLKETONURIA


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

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Other less relevant matches:

High match MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5


Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by Woods et al., 2005; Saadi et al., 2009; Passemard et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5

High match HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY


Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.

HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY Is also known as methylenetetrahydrofolate reductase deficiency|mthfr deficiency|methylene tetrahydrofolate reductase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY

High match EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD


Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

High match PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11


PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11

High match X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME


X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

High match NEONATAL GLYCINE ENCEPHALOPATHY


Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy|neonatal nkh|nkh|neonatal non-ketotic hyperglycinemia|hyperglycinemia, nonketotic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL GLYCINE ENCEPHALOPATHY

High match X-LINKED CREATINE TRANSPORTER DEFICIENCY


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

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Attention deficit hyperactivity disorder

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hyperactivity Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Intellectual disability, severe and Attention deficit hyperactivity disorder. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Ataxia

Common Symptoms - More than 50% cases


Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases


Behavioral abnormality Hypoplasia of the corpus callosum Intellectual disability, moderate Spasticity Intellectual disability, mild Autism Motor delay Short stature Autistic behavior Muscular hypotonia Agenesis of corpus callosum Neurological speech impairment Cognitive impairment Hypertonia Abnormality of the nervous system Encephalopathy Neonatal hypotonia

Rare Symptoms - Less than 30% cases


Lethargy Epileptic encephalopathy Severe global developmental delay Apnea Hypsarrhythmia Progressive neurologic deterioration Gait disturbance Failure to thrive Poor suck Mandibular prognathia Choreoathetosis Abnormal facial shape Hyporeflexia Long face Impaired social interactions Poor eye contact Limb ataxia Stereotypy Poor speech Hypermetropia Feeding difficulties Dysarthria Strabismus Vomiting Speech apraxia Aggressive behavior Irritability Chorea Focal-onset seizure Language impairment Coma Growth delay Tremor Febrile seizures Cerebellar hypoplasia Scoliosis Hyperreflexia Polymicrogyria Memory impairment Ventriculomegaly Ileus Enlarged cisterna magna Microphallus Abnormality of the philtrum Retrocerebellar cyst Abnormality of metabolism/homeostasis Infra-orbital crease Disorganization of the anterior cerebellar vermis Self-mutilation Hypertension Optic atrophy Hydrocephalus Myopathic facies Thrombocytopenia Athetosis Visual loss Chronic constipation Focal impaired awareness seizure Long nose Abnormality of creatine metabolism Thin upper lip vermilion Deeply set eye Short philtrum Dysmetria Poor hand-eye coordination Abnormal cerebellum morphology Triangular face Prominent nose External genital hypoplasia Duodenal ulcer Urethral stenosis Hypotelorism Cerebellar vermis hypoplasia Intention tremor Scrotal hypoplasia Prominent supraorbital ridges Acidosis Myoclonus Redundant skin Mask-like facies Ophthalmoplegia Delayed myelination Nonketotic hyperglycinemia Parkinsonism Episodic ketoacidosis Recurrent singultus Joint hypermobility Joint hyperflexibility Pill-rolling tremor Broad forehead Posterior fossa cyst Ptosis Feeding difficulties in infancy Dystonia Muscular hypotonia of the trunk Malar flattening Pes cavus Midface retrusion Constipation Delirium Hyperglycinuria Absent speech Tall stature Cachexia Neutropenia External ophthalmoplegia Aciduria Narrow face Intellectual disability, profound Exotropia Leukopenia Impulsivity Vertical supranuclear gaze palsy Spastic diplegia Aganglionic megacolon Clumsiness Open mouth Infantile spasms Weak cry Restlessness Ketoacidosis Hyperglycinemia Macrotia Respiratory tract infection Gait ataxia Peripheral neuropathy Cortical gyral simplification Partial agenesis of the corpus callosum Prominent glabella Hypoplasia of the frontal lobes Small cerebral cortex Thick corpus callosum Unilateral polymicrogyria Muscle weakness Cerebral atrophy Narrow forehead Proximal muscle weakness Stroke Limb muscle weakness Paresthesia Waddling gait Myocardial infarction Hallucinations Paraparesis Incoordination Cortical dysplasia Sloping forehead Thromboembolism Hypopigmentation of the skin Delayed skeletal maturation Decreased body weight Amblyopia Chorioretinal degeneration Cataract Depressivity Mental deterioration Nausea and vomiting Paraplegia Cerebral calcification Highly arched eyebrow Eczema Hemiplegia Self-injurious behavior Hypopigmentation of hair Lack of skin elasticity Motor deterioration Hyperphenylalaninemia Hearing impairment Proptosis Coronary artery atherosclerosis Delusions Micropenis Broad-based gait Protruding ear Coloboma Talipes Anal atresia Bulbous nose Inability to walk Generalized muscle weakness Esotropia Dandy-Walker malformation Molar tooth sign on MRI Recurrent respiratory infections Poor coordination Happy demeanor Nystagmus Cryptorchidism Macrocephaly Frontal bossing Dilatation Prominent forehead Cerebral cortical atrophy Difficulty walking Talipes equinovarus Homocystinuria Hemiparesis Hyperhomocystinemia EEG abnormality Developmental regression Generalized myoclonic seizures Progressive cerebellar ataxia Urinary incontinence Generalized-onset seizure Apraxia Status epilepticus Dysdiadochokinesis Dysphagia Dysphasia Aphasia Epileptic spasms Perisylvian polymicrogyria Agnosia Oromotor apraxia EEG with centrotemporal focal spike waves Continuous spike and waves during slow sleep Skeletal muscle atrophy Underfolded superior helices



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