Global developmental delay, and Cognitive impairment

Diseases related with Global developmental delay and Cognitive impairment

In the following list you will find some of the most common rare diseases related to Global developmental delay and Cognitive impairment that can help you solving undiagnosed cases.

Top 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

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.

ABETAL34V AMYLOIDOSIS Is also known as abetal34v-related amyloidosis|abeta amyloidosis, piedmont type|hchwa, piedmont type|hereditary cerebral hemorrhage with amyloidosis, piedmont type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Behavioral abnormality
  • Dementia
  • Stroke


SOURCES: ORPHANET MENDELIAN

More info about ABETAL34V AMYLOIDOSIS

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

Other less relevant matches:

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:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Cerebellar hypoplasia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26

The Houge type of X-linked syndromic mental retardation is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. EEG tends to show continuous spike-wave activity or centrotemporal spikes. Some patients may have remission of seizures by adolescence. Carrier females may be mildly affected (summary by Damiano et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43; EIEE43

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

Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993).PMG may be a feature of other conditions as well (see, e.g., {300643}).

BILATERAL PERISYLVIAN POLYMICROGYRIA Is also known as perisylvian syndrome, congenital bilateral|bpp|cbps|pmgx

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about BILATERAL PERISYLVIAN POLYMICROGYRIA

Top 5 symptoms//phenotypes associated to Global developmental delay and Cognitive impairment

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Absent speech Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Cognitive impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized tonic-clonic seizures

Rare Symptoms - Less than 30% cases

Motor delay Epileptic encephalopathy Hypsarrhythmia Delayed speech and language development Hyperactivity Intellectual disability, severe Increased serum lactate Febrile seizures Encephalopathy Dystonia Dementia Restlessness Cerebral cortical atrophy Pseudobulbar signs Atypical absence seizures Perisylvian polymicrogyria Pseudobulbar paralysis Agitation Multifocal epileptiform discharges Dyslexia Polymicrogyria Autism Athetosis Paralysis Intellectual disability, mild Attention deficit hyperactivity disorder Dysphagia Impulsivity Dyskinesia Hyperreflexia Muscular hypotonia of the trunk Dysarthria Inability to walk Abnormality of extrapyramidal motor function Severe global developmental delay Dysmetria Delayed ability to walk Visual impairment Abnormal facial shape Tremor Myoclonus Behavioral abnormality Stroke Paresthesia Coma Sensory impairment Migraine Cerebral hemorrhage Abnormality of the cerebral vasculature Feeding difficulties Intrauterine growth retardation Truncal ataxia Cardiomyopathy Congestive heart failure Arrhythmia Acidosis Hypertrophic cardiomyopathy Feeding difficulties in infancy Lactic acidosis Intellectual disability, moderate Dental crowding Pointed chin Absence seizures Nystagmus Cerebellar hypoplasia Facial tics


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Respiratory distress, related diseases and genetic alterations Autoimmunity and Congenital cataract, related diseases and genetic alterations Epicanthus and Craniosynostosis, related diseases and genetic alterations High palate and Long face, related diseases and genetic alterations Sensorineural hearing impairment and Nephroblastoma, related diseases and genetic alterations Generalized hypotonia and Micropenis, related diseases and genetic alterations