Cognitive impairment, and Severe global developmental delay

Diseases related with Cognitive impairment and Severe global developmental delay

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


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6


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

Medium match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4


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

Medium match LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6


Lissencephaly-6 is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6

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Other less relevant matches:

Medium match CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY


Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.

CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY Is also known as clwm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY

Medium match DRAVET SYNDROME


Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.

DRAVET SYNDROME Is also known as smei|severe myoclonus epilepsy of infancy|ds|severe myoclonic epilepsy of infancy|dravet syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DRAVET SYNDROME

Medium match COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT


Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT Is also known as lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47


Early infantile epileptic encephalopathy-47 is a neurologic disorder characterized by onset of intractable seizures in the first days or weeks of life. EEG shows background slowing and multifocal epileptic spikes, and may show hypsarrhythmia. Most patients have developmental regression after seizure onset and show persistent intellectual disability and neurologic impairment, although the severity is variable. Treatment with phenytoin, a voltage-gated sodium channel blocker, may be beneficial (summary by Guella et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47

Medium match GM2 GANGLIOSIDOSIS, AB VARIANT


GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.

GM2 GANGLIOSIDOSIS, AB VARIANT Is also known as tay-sachs disease, ab variant|ab variant gm2-gangliosidosis|hexosaminidase activator deficiency|gm2 activator deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GM2 GANGLIOSIDOSIS, AB VARIANT

Medium match AMELOCEREBROHYPOHIDROTIC SYNDROME


Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.

AMELOCEREBROHYPOHIDROTIC SYNDROME Is also known as epilepsy and yellow teeth|kohlschutter syndrome|kohlschutter-tonz syndrome|epilepsy, dementia, and amelogenesis imperfecta|epilepsy-dementia-amelogenesis imperfecta syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AMELOCEREBROHYPOHIDROTIC SYNDROME

Medium match MPDU1-CDG


The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.

MPDU1-CDG Is also known as congenital disorder of glycosylation type 1f|cdg syndrome type if|cdg-if|cdgif|cdg1f|carbohydrate deficient glycoprotein syndrome type if|congenital disorder of glycosylation type if|cdg if

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MPDU1-CDG

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

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

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Motor delay Encephalopathy Developmental regression Ventriculomegaly Muscular hypotonia Cerebral atrophy Dystonia Absent speech Hypertonia EEG abnormality Failure to thrive Mental deterioration Focal-onset seizure Epileptic encephalopathy Dementia Muscular hypotonia of the trunk Myoclonus Spasticity Hyperreflexia

Rare Symptoms - Less than 30% cases


Generalized myoclonic seizures Hypsarrhythmia Visual impairment Feeding difficulties Short stature Abnormal pyramidal sign Abnormal cerebellum morphology Progressive neurologic deterioration Hydrocephalus Cerebellar hypoplasia Status epilepticus Postnatal microcephaly Cerebral visual impairment Absence seizures Hypohidrosis Gait disturbance Neurodegeneration Optic atrophy Leukoencephalopathy Nystagmus Tremor Abnormality of extrapyramidal motor function Abnormal facial shape Athetosis Polymicrogyria Intellectual disability, severe Heterotopia Lissencephaly Hearing impairment Inability to walk Delayed speech and language development Poor speech Abnormality of the cerebral white matter Paralysis Exaggerated startle response Primitive reflex Loss of speech Limb dystonia Apathy Poor head control Spastic tetraparesis Aspiration Ichthyosis Tetraparesis Chorea Postnatal growth retardation Abnormal autonomic nervous system physiology Dry skin Anxiety Cerebral cortical atrophy Blindness Muscle weakness Abnormality of vision Scaling skin Erythroderma Multifocal epileptiform discharges Chronic constipation Arnold-Chiari type I malformation Inappropriate behavior Pseudobulbar signs Progressive spastic quadriplegia Apnea Flexion contracture Strabismus Hyperkeratosis Growth delay Yellow-brown discoloration of the teeth Abnormality of dental color Amelogenesis imperfecta Coarse hair Abnormality of dental enamel Hypoplasia of dental enamel Broad thumb Cerebellar vermis hypoplasia Severe short stature Intellectual disability, profound Smooth philtrum Upslanted palpebral fissure GM2-ganglioside accumulation Abnormal fear/anxiety-related behavior Abnormality of the eye Glabellar reflex Infantile axial hypotonia Abnormal involuntary eye movements Cherry red spot of the macula Hyperacusis Punctate periventricular T2 hyperintense foci Cerebellar atrophy Limb ataxia Limb hypertonia Generalized tonic-clonic seizures with focal onset Atonic seizures Neurodevelopmental delay Focal impaired awareness seizure Pachygyria Progressive microcephaly Cutaneous photosensitivity Cortical gyral simplification Generalized-onset seizure Partial agenesis of the corpus callosum Febrile seizures Migraine Hemiclonic seizures Dilation of lateral ventricles Generalized tonic-clonic seizures Stroke Sensorineural hearing impairment Hyperactivity Behavioral abnormality Fever Cerebral calcification Nonprogressive encephalopathy Doll-like facies Focal white matter lesions Abnormal CNS myelination Multifocal seizures Focal clonic seizures Optic disc pallor Encephalocele Autism Constipation Abnormal myelination Increased serum lactate Right hemiplegia Gray matter heterotopias Type II lissencephaly Porencephalic cyst Occipital encephalocele Infantile spasms Hypoplasia of the brainstem Hemiplegia Spastic tetraplegia Psychomotor retardation Tetraplegia Coma Restlessness Paraplegia Spastic paraplegia Muscular dystrophy Hypoplasia of the corpus callosum Agenesis of corpus callosum Sloping forehead Macrocephaly Cataract Obtundation status Abnormality of the coagulation cascade



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