Diseases

Mental retardation short stature microcephaly eye

Mental retardation - short stature - microcephaly - eye anomalies: A very rare syndrome characterized mainly by mental retardation, short stature, small head and eye abnormalities. It has only been reported in one family.

Mental retardation short stature unusual facies

Unusual facies, short webbed neck, mental retardation, short stature: A rare syndrome characterized by an unusual facial appearance, short webbed neck, mental retardation and short stature

Mental retardation spasticity ectrodactyly

Mental retardation - spasticity - ectrodactyly: A very rare syndrome characterized mainly by mental retardation, spasticity and a cleft hand. In the reported case, the parents came from the same bloodline

Mental retardation unusual facies

Mental retardation - unusual facies - talipes - hand anomalies: A very rare syndrome characterized mainly by mental retardation, unusual facial appearance, clubfoot and hand abnormalities.

Mental retardation Wolff type

Mental retardation, Wolff type: A very rare syndrome characterized mainly by severe mental retardation and facial anomalies. The parents came from the same bloodline.

Mental retardation X-linked borderline Maoa metabolism anomaly

Mental retardation x linked borderline maoa metabolism anomaly (medical condition): A very rare syndrome characterized mainly by mental retardation and lower than normal levels of monoamine oxidase A (MAOA) activity. Low levels of MAOA have been implicated with increased behavioral problems such as violence and impulsiveness.

Mental retardation X-linked Brunner type

Mental retardation, X-linked, Brunner type: A very rare disorder where a deficiency of monoamine oxidase A causesmild mental retardation and behavioral problems.

Mental retardation X-linked dysmorphism

Mental retardation X-linked dysmorphism: A very rare syndrome characterized mainly by mental retardation, partially dislocated knees and teeth and facial abnormalities.

Mental retardation X-linked dystonia dysarthria

Mental retardation, X-linked - dystonia - dysarthria: A very rare X-linked disorder characterized by the association of mental retardation with dystonia (movement disorder) and dysarthria (speech disorder).

Mental retardation X-linked- South African type

Mental retardation X-linked, South African type: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation.

Mental retardation- X-linked 14

Mental retardation, X-linked syndromic 14: A syndromic form of mental retardation which also involves variable features including poorly muscled build and facial anomalies. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms. The genetic defect is located on chromosome Xq25-q26

Mental retardation- X-linked- nonspecific

Non-specific X-linked mental retardation (MRX) is a very common disorder which affects approximately 1 in 600 males. Despite this high frequency, little is known about the molecular defects underlying this disorder, mainly because of the clinical and genetic heterogeneity which is evident from linkage studies. Recently, a collaborative study using the candidate gene approach demonstrated the presence of mutations in GDIalpha, a Rab GDP-dissociation inhibitor encoded by a gene localized in Xq28, associated with non-specific mental retardation.