Intellectual disability, severe, and Apraxia

Diseases related with Intellectual disability, severe and Apraxia

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

Top matches:

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

Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa (Romano et al., 2006).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 6; JBTS6

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

Other less relevant matches:

The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT ), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RETT SYNDROME, CONGENITAL VARIANT

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

OROFACIODIGITAL SYNDROME XVI; OFD16 Is also known as oral-facial-digital syndrome, type xvi|ofds xvi

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVI; OFD16

Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2|cdkl5 deficiency disorder|infantile spasm syndrome, x-linked 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY

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

High match RETT SYNDROME

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about RETT SYNDROME

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Cognitive impairment Motor delay EEG abnormality Muscular hypotonia Spasticity Behavioral abnormality Encephalopathy Dystonia Intellectual disability, moderate Developmental regression Generalized myoclonic seizures Language impairment Chorea Oculomotor apraxia Failure to thrive Retinopathy Molar tooth sign on MRI Scoliosis Postnatal microcephaly Progressive microcephaly Epileptic encephalopathy Stereotypy Delayed myelination Delayed speech and language development Constipation Focal-onset seizure Autism

Rare Symptoms - Less than 30% cases

Myoclonus Irritability Neonatal hypotonia Bruxism Abnormality of metabolism/homeostasis Polydactyly Hypertonia Postaxial polydactyly Hypoplasia of the corpus callosum Gastroesophageal reflux Short stature Muscular hypotonia of the trunk Inguinal hernia Apnea Generalized tonic-clonic seizures Abnormality of movement Broad forehead Dyskinesia Sleep disturbance Athetosis Choreoathetosis Impaired social interactions Poor eye contact Sloping forehead Absent speech Nephronophthisis Blindness Arthrogryposis multiplex congenita Ptosis Dysphasia Abnormality of the eye Speech apraxia Depressed nasal bridge Status epilepticus Attention deficit hyperactivity disorder Autistic behavior Hyperactivity Dysarthria Hemiparesis Abnormal facial shape Breathing dysregulation Tall stature Inability to walk Low-set ears Short foot Intellectual disability, mild Tapered finger Intellectual disability, profound Hypsarrhythmia Reduced pancreatic beta cells Thick lower lip vermilion Tetraparesis Contractures of the joints of the lower limbs Neonatal insulin-dependent diabetes mellitus Cerebral visual impairment Ventricular septal defect Hernia Small hand Hamartoma Prominent forehead Cerebellar atrophy Respiratory failure Anteverted nares High palate Sacrococcygeal teratoma Hamartoma of tongue Teratoma Heterotopia Thick vermilion border Short palpebral fissure Intestinal malrotation Kyphoscoliosis Deeply set eye Retrognathia Severe global developmental delay Short palm Cerebral atrophy Ventriculomegaly Spastic tetraparesis Long face Loss of consciousness Arrhythmia Self-mutilation Chronic constipation Ileus Urethral stenosis Duodenal ulcer Abnormality of creatine metabolism Poor hand-eye coordination Underfolded superior helices Muscle weakness Hepatomegaly Respiratory insufficiency Abnormality of the dentition Depressivity Clinodactyly of the 5th finger Mask-like facies Cerebral cortical atrophy Macrotia Joint stiffness Tetraplegia Arnold-Chiari malformation Abnormality of the metacarpal bones Self-injurious behavior Hemiplegia/hemiparesis Decreased muscle mass Abnormality of the skull Acrocyanosis Abnormality of the antihelix Narrow foot Myopathic facies Redundant skin Infantile spasms Mandibular prognathia Hyperventilation Developmental stagnation Mood swings Infantile encephalopathy Multifocal seizures Thoracolumbar kyphoscoliosis EEG with generalized slow activity Feeding difficulties Gait disturbance Vomiting Malar flattening Midface retrusion Pes cavus Aggressive behavior Cachexia Feeding difficulties in infancy Hypermetropia Ophthalmoplegia Joint hyperflexibility Hypovolemia Joint hypermobility Parkinsonism Open mouth Clumsiness Aganglionic megacolon Exotropia Narrow face External ophthalmoplegia Pancreatic hypoplasia Micropenis Microalbuminuria Confusion Strabismus Hyperreflexia Fatigue Headache Babinski sign Difficulty walking Mental deterioration Paralysis Lethargy Poor speech Falls Enlarged fossa interpeduncularis Specific learning disability Cyanosis Involuntary movements Muscle stiffness Absence seizures Sleep apnea Hyperkinesis Incoordination Slurred speech Focal impaired awareness seizure Atonic seizures Thickened superior cerebellar peduncle Elongated superior cerebellar peduncle Central apnea Oromotor apraxia Neurological speech impairment Polymicrogyria Progressive cerebellar ataxia Urinary incontinence Febrile seizures Generalized-onset seizure Dysdiadochokinesis Aphasia Epileptic spasms Perisylvian polymicrogyria Agnosia EEG with centrotemporal focal spike waves Hyperechogenic kidneys Continuous spike and waves during slow sleep Coloboma Abnormality of eye movement Stage 5 chronic kidney disease Retinal degeneration Cerebellar vermis hypoplasia Hepatic fibrosis Severe muscular hypotonia Chorioretinal coloboma Abnormal retinal morphology Bile duct proliferation Drowsiness Paroxysmal dyskinesia Abnormality of the upper urinary tract Weight loss Congenital diaphragmatic hernia Wide anterior fontanel Aplasia/Hypoplasia of the corpus callosum Triphalangeal thumb Aplasia/Hypoplasia of the cerebellum Prominent occiput Abnormality of the clavicle Hearing impairment Intrauterine growth retardation Abnormal heart morphology Peripheral axonal neuropathy Postaxial hand polydactyly Downturned corners of mouth Coma Dehydration Bilateral ptosis Hyperglycemia Neurodevelopmental delay Glycosuria Prominent metopic ridge Renal tubular dysfunction Ketonuria Autoimmune antibody positivity Ambiguous genitalia Dandy-Walker malformation Paroxysmal dystonia Postnatal growth retardation Atypical absence seizures Abnormal erythrocyte morphology Extrapyramidal dyskinesia Generalized hyperreflexia Hypoglycorrhachia Paroxysmal involuntary eye movements Paroxysmal lethargy Growth delay Talipes equinovarus Kyphosis Pes planus Genu valgum Retinal dystrophy Pachygyria Aspiration Drooling Cortical gyral simplification Inappropriate laughter Tongue thrusting Hypertelorism Sensorineural hearing impairment Cryptorchidism Macrocephaly Hypospadias Thin fingernail


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