Neoplasm, and Intellectual disability

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56; MRT56

• Intellectual disability

SOURCES: OMIM MENDELIAN

Low match MENTAL RETARDATION, X-LINKED 96; MRX96

• Intellectual disability
• Seizures

SOURCES: OMIM MENDELIAN

Low match HSD10 DISEASE, ATYPICAL TYPE

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

• Intellectual disability
• Behavioral abnormality
• Abnormality of movement

SOURCES: MESH ORPHANET MENDELIAN

Low match MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT; MCPH18

• Intellectual disability
• Microcephaly

SOURCES: OMIM MENDELIAN

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

• Intellectual disability
• Seizures
• Global developmental delay
• Abnormal facial shape
• Cognitive impairment

SOURCES: OMIM MESH MENDELIAN

Low match SECKEL SYNDROME 6; SCKL6

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

SOURCES: OMIM MENDELIAN

Low match DIHYDROPTERIDINE REDUCTASE DEFICIENCY

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

• Intellectual disability
• Global developmental delay
• Microcephaly
• Dysphagia

SOURCES: ORPHANET MENDELIAN

Low match X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME

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).

• Intellectual disability
• Spasticity
• Hypertonia
• Rigidity
• Status epilepticus

SOURCES: ORPHANET MENDELIAN

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11

• Intellectual disability
• Seizures
• Generalized hypotonia

SOURCES: OMIM MENDELIAN

Low match BARDET-BIEDL SYNDROME 14; BBS14

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 ).

• Intellectual disability
• Global developmental delay
• Obesity
• Rod-cone dystrophy

SOURCES: OMIM MESH MENDELIAN