Delayed speech and language development, and Intellectual disability, profound

Diseases related with Delayed speech and language development and Intellectual disability, profound

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Intellectual disability, profound that can help you solving undiagnosed cases.


Top matches:

High match SECKEL SYNDROME 6; SCKL6

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS DOID OMIM MONDO

More info about SECKEL SYNDROME 6; SCKL6

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development


SOURCES: MONDO UMLS DOID OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2

High match CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2

Guanidinoacetate methyltransferase deficiency, an autosomal recessive inborn error of creatine synthesis, is characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids (summary by Schulze, 2003).For a general phenotypic description and a discussion of genetic heterogeneity of CCDS, see CCDS1 (OMIM ).

CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 Is also known as guanidinoacetate methyltransferase deficiency, gamt deficiency, creatine deficiency syndrome due to gamt deficiency;gamt deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET MONDO GARD DOID MESH SCTID OMIM UMLS

More info about CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53

Autosomal recessive mental retardation-53 is a neurodevelopmental disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar hypoplasia and ataxia. MRT53 is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Makrythanasis et al., 2016).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53 Is also known as glycosylphosphatidylinositol biosynthesis defect 13;gpibd13

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM UMLS MONDO

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39; EIEE39

Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39; EIEE39 Is also known as hypomyelination, global cerebral, aspartate-glutamate carrier 1 deficiency, agc1 deficiency;agc1 deficiency; mitochondrial aspartate-glutamate carrier 1 deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS ORPHANET MONDO MESH OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39; EIEE39

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MESH UMLS GARD MONDO OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4

High match LISSENCEPHALY 3; LIS3

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET MONDO MESH NCIT OMIM

More info about LISSENCEPHALY 3; LIS3

High match X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX.

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as x-linked non-specific intellectual disability

Related symptoms:

  • Intellectual disability


SOURCES: SCTID ORPHANET UMLS

More info about X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56; MRT56

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability


SOURCES: MONDO OMIM UMLS

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56; MRT56

High match GLUTATHIONURIA

Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

GLUTATHIONURIA Is also known as gamma-glutamyltranspeptidase deficiency, ggt deficiency, gtg deficiency, gamma-glutamyltransferase deficiency;glutathionuria

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Abnormality of metabolism/homeostasis


SOURCES: UMLS GARD ORPHANET MESH MONDO SCTID OMIM

More info about GLUTATHIONURIA

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Intellectual disability, profound

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Delayed speech and language development and Intellectual disability, profound. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Motor delay Intellectual disability, severe Ataxia Hypoplasia of the corpus callosum Autosomal dominant inheritance

Rare Symptoms - Less than 30% cases


Tetraplegia Spastic tetraplegia Cerebral hypomyelination CNS hypomyelination Epileptic encephalopathy Severe global developmental delay Microcephaly Cerebellar hypoplasia Cerebral atrophy Severe muscular hypotonia Hyperreflexia Hypertonia Abnormal pyramidal sign EEG with burst suppression Congenital microcephaly Esodeviation Impaired horizontal smooth pursuit Hemianopia Generalized tonic seizures Infantile encephalopathy Cortical dysplasia Neonatal onset Epileptic spasms Status epilepticus Hypsarrhythmia Generalized tonic-clonic seizures Strabismus Hemiparesis Feeding difficulties Heterotopia Ventriculomegaly Blindness Dilatation Agenesis of corpus callosum Muscular hypotonia of the trunk Abnormality of neuronal migration Hypoplasia of the brainstem Polymicrogyria Focal seizures Lissencephaly Cerebellar vermis hypoplasia Cortical visual impairment Pachygyria Cerebellar dysplasia Poor head control Neurodegeneration Congenital onset Short stature Ectodermal dysplasia Hidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Stooped posture Muscular hypotonia Myoclonus Abnormality of movement Absence seizures Involuntary movements Infantile muscular hypotonia Progressive extrapyramidal movement disorder Intrauterine growth retardation Hyporeflexia EEG with focal spikes Generalized myoclonic seizures Fever Dyskinesia Spastic paraplegia Developmental regression Cerebral cortical atrophy Arrhythmia Tremor Poor eye contact Spasticity Leukoencephalopathy Generalized seizures Delayed myelination Apnea Encephalopathy Infantile onset Abnormality of metabolism/homeostasis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Abnormality of the kidney, related diseases and genetic alterations Fever and Hypertrophic cardiomyopathy, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more