Intellectual disability, and Focal seizures, afebril

Diseases related with Intellectual disability and Focal seizures, afebril

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

Top matches:

TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME Is also known as tach syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MENDELIAN

More info about TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Related symptoms:

  • Intellectual disability
  • Seizures


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 96; MRX96

Other less relevant matches:

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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 6; SCKL6

This syndrome is characterised by myoclonic epilepsy with generalised spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Hypertonia
  • Rigidity
  • Status epilepticus


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11

The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.

5Q35 MICRODUPLICATION SYNDROME Is also known as dup(5)(q35)|trisomy 5q35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about 5Q35 MICRODUPLICATION SYNDROME

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY

Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

Top 5 symptoms//phenotypes associated to Intellectual disability and Focal seizures, afebril

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Postnatal growth retardation Rare - less than 30% cases

Other less frequent symptoms

Patients with Intellectual disability and Focal seizures, afebril. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Generalized hypotonia Growth delay Intrauterine growth retardation Behavioral abnormality Developmental regression Cognitive impairment Hypertonia Dystonia Optic atrophy Myopia Spasticity Inspiratory stridor J-shaped sella turcica Morphological abnormality of the central nervous system Heparan sulfate excretion in urine Abnormality of the optic disc Hyperplasia of the maxilla Urinary glycosaminoglycan excretion Hypochromic anemia Obstructive lung disease Beaking of vertebral bodies Thoracolumbar kyphosis Protruding tongue Progressive hearing impairment Tachypnea Increased intracranial pressure Recurrent upper respiratory tract infections Heart murmur Pericardial effusion Distal arthrogryposis Increased mean corpuscular volume Protuberant abdomen Insomnia Abnormality of the skull Edema of the lower limbs Short digit Communicating hydrocephalus Anisopoikilocytosis Localized skin lesion Abnormality of mucopolysaccharide metabolism Specific learning disability Lactic acidosis Feeding difficulties in infancy Hypertrophic cardiomyopathy Acidosis Arrhythmia Congestive heart failure Cardiomyopathy Visual impairment Feeding difficulties Absence seizures Brain atrophy Cerebral atrophy Failure to thrive Delayed skeletal maturation Dermatan sulfate excretion in urine Hemiplegia Muscle stiffness Status epilepticus Rigidity Motor delay Delayed speech and language development Myoclonus Tremor Abnormal facial shape Abnormality of nasopharyngeal adenoids Abnormality of the face Dysplastic aortic valve Intervertebral space narrowing Thickened skin Cyanosis Mitral regurgitation Intention tremor Vertical supranuclear gaze palsy Positive Romberg sign Abnormality of the basal ganglia Upper motor neuron dysfunction Spastic dysarthria Impaired vibration sensation in the lower limbs Postural tremor CNS hypomyelination Oligodontia Drooling Hypogonadotrophic hypogonadism Leukodystrophy Clumsiness Hypodontia Autonomic bladder dysfunction Delayed eruption of teeth Dysmetria Delayed puberty Deeply set eye Cerebral cortical atrophy Cerebellar hypoplasia Babinski sign Intellectual disability, mild Hypoplasia of the corpus callosum Dysphagia Hyperreflexia Peripheral neuropathy Nystagmus Ataxia Abnormality of ocular smooth pursuit Impaired distal proprioception Recurrent otitis media Mandibular prognathia Pulmonary arterial hypertension Mitral valve prolapse Abnormality of the cardiovascular system Limitation of joint mobility Macroglossia Ascites Tachycardia Joint stiffness Aggressive behavior Hepatosplenomegaly Umbilical hernia Coarse facial features Kyphoscoliosis Dyspnea Proptosis High myoinositol in brain by MRS Hyperactivity Prominent forehead Inguinal hernia Kyphosis Edema Short neck Anteverted nares Abnormality of the skeletal system Frontal bossing Macrocephaly Hepatomegaly Depressed nasal bridge Low-set ears Hearing impairment Increased serum lactate


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