In the following list you will find some of the most common rare diseases related to Neoplasm and Intellectual disability that can help you solving undiagnosed cases.
HSD10 DISEASE, ATYPICAL TYPE Is also known as syndromic x-linked intellectual disability type 10|hsd10 deficiency, atypical type|x-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
Related symptoms:
SOURCES: MESH ORPHANET MENDELIAN
More info about HSD10 DISEASE, ATYPICAL TYPE
Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.
DIHYDROPTERIDINE REDUCTASE DEFICIENCY Is also known as hyperphenylalaninemia due to dihydropteridine reductase deficiency|pku type 2|phenylketonuria type 2
Related symptoms:
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:
BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).
Related symptoms:
Symptoms // Phenotype | % cases |
---|---|
Global developmental delay | Uncommon - Between 30% and 50% cases |
Seizures | Uncommon - Between 30% and 50% cases |
Microcephaly | Uncommon - Between 30% and 50% cases |
Dysphagia | Rare - less than 30% cases |
Obesity | Rare - less than 30% cases |
Patients with Neoplasm and Intellectual disability. may also develop some of the following symptoms:
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