Undiagnosed Neoplasm, and Intellectual disability

Diseases related with Neoplasm and Intellectual disability

In the following list you will find some of the most common rare diseases related to Neoplasm and Intellectual disability that can help you to solve undiagnosed cases. Browse more diseases related to these clinical features.

Low match X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

X-linked non-specific intellectual disability

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as 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.

Related symptoms:

  • Intellectual disability


SOURCES: SCTID UMLS ORPHANET

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Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56; MRT56

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability


SOURCES: MONDO UMLS OMIM

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56; MRT56

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Low match GLUTATHIONURIA

Glutathionuria

GLUTATHIONURIA Is also known as gamma-glutamyltranspeptidase deficiency, ggt deficiency, gtg deficiency, gamma-glutamyltransferase deficiency;gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

Related symptoms:

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


SOURCES: SCTID UMLS ORPHANET MONDO GARD MESH OMIM

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Low match MENTAL RETARDATION, X-LINKED 96; MRX96

Related symptoms:

  • Intellectual disability
  • Seizures
  • X-linked dominant inheritance


SOURCES: MONDO OMIM UMLS

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

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Low match EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1

Autosomal dominant nocturnal frontal lobe epilepsy (ENFL, ADNFLE) is a partial epilepsy with frontal lobe seizure semiology. It is characterized by childhood onset of frequent violent and brief motor seizures occurring at night. The disorder may be misdiagnosed as night terrors, nightmares, hysteria, or paroxysmal nocturnal dystonia. The condition usually persists through adult life ({9,8:Scheffer et al., 1994, 1995}). The disorder is clinically distinctive and relatively homogeneous, although seizure severity and specific frontal lobe seizure manifestations vary within families (Hayman et al., 1997). Genetic Heterogeneity of Nocturnal Frontal Lobe EpilepsyNocturnal frontal lobe epilepsy is a genetically heterogeneous condition. See also ENFL2 (OMIM ), which maps to chromosome 15q24; ENFL3 (OMIM ), caused by mutation in the CHRNB2 gene (OMIM ) on chromosome 1q21; ENFL4 (OMIM ), caused by mutation in the CHRNA2 gene (OMIM ) on chromosome 8p21; and ENFL5 (OMIM ), caused by mutation in the KCNT1 gene (OMIM ) on chromosome 9q34.Nocturnal frontal lobe seizures are also observed in some patients with familial focal epilepsy with variable foci (FFEVF ), caused by mutation in the DEPDC5 gene (OMIM ) on chromosome 22q12.

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Focal seizures
  • Childhood onset


SOURCES: MONDO DOID OMIM MESH UMLS

More info about EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1

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Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18; MRT18

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Nevus


SOURCES: MONDO OMIM UMLS GARD

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18; MRT18

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Low match HSD10 DISEASE, ATYPICAL TYPE

HSD10 deficiency, atypical type; Syndromic X-linked intellectual disability type 10; X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome

HSD10 DISEASE, ATYPICAL TYPE Is also known as hsd10 disease, atypical type is a clinical subtype of hsd10 disease, a rare neurometabolic disorder. manifestations may be variable and may be characterized by intellectual disability, choreoathetosis and/or behavior disorders (aggressiveness, agitation, hallucinations, automutilation), as well as pre- and postnatal growth retardation, microcephaly and/or speech impairment. severe ketoacidosis and elevated urinary excretion of isoleucine metabolites are reported.

Related symptoms:

  • Intellectual disability
  • Behavioral abnormality
  • Abnormality of movement


SOURCES: MESH ORPHANET MONDO UMLS DOID

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Low match MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT; MCPH18

Related symptoms:

  • Intellectual disability
  • Microcephaly


SOURCES: OMIM UMLS

More info about MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT; MCPH18

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Low match NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY; NDMSCA

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Cerebral cortical atrophy


SOURCES: OMIM

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY; NDMSCA

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Low match SECKEL SYNDROME 6; SCKL6

Related symptoms:

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


SOURCES: OMIM DOID UMLS MONDO

More info about SECKEL SYNDROME 6; SCKL6

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Top 5 symptoms//phenotypes associated to Neoplasm and Intellectual disability

Symptoms // Phenotype % Cases
Autosomal recessive inheritance 40%
Seizures 30%
Microcephaly 30%
Global developmental delay 20%
Motor delay 10%
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Other less frequent symptoms

Patients with Neoplasm and Intellectual disability. may also develop some of the following symptoms:

10% Short stature 10% Cerebral cortical atrophy 10% Abnormality of movement 10% Nevus 10% Behavioral abnormality 10% Auras 10% Childhood onset 10% Focal seizures 10% Autosomal dominant inheritance 10% X-linked dominant inheritance 10% Abnormality of metabolism/homeostasis 10% Delayed speech and language development



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Other signs and symptoms that you may find interesting

Microphthalmia and Attention deficit hyperactivity disorder, related diseases and genetic alterations Intellectual disability, severe and Small for gestational age, related diseases and genetic alterations Visual impairment and Alopecia, related diseases and genetic alterations Pain and Ventriculomegaly, related diseases and genetic alterations Muscle weakness and Hernia, related diseases and genetic alterations Microcephaly and Stage 5 chronic kidney disease, related diseases and genetic alterations Carcinoma and Poor speech, related diseases and genetic alterations