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MBD25–related intellectual disability,* or MBD25 haploinsufficiency, * is a neurological and developmental disorder characterized by developmental delay, intellectual disability, speech problems, seizures, sleep troubles, and abnormal behaviors. Most children lack speech entirely or may only be able to use single words, short phrases, or short sentences. Seizures are present in about 80% and usually begin around age two years. Sleep troubles, present in about 80% of children, can cause daytime drowsiness. Abnormal behaviors can include autistic-like- behavior (80%) and self-injury and aggression (60%). The disorder is caused by mutations or deletions (loss) of the MBD5 gene located on chromosome 2. People who have deletions of chromosome 2q23.1 which only include the MBD5 gene have similar symptoms and features to people with mutations of the MBD5 gene. People with larger deletions may also have ataxia, eating disorders, growth delay, and small hands and feet. These extra features in people with larger deletions are believed to be due to the loss of other genes located near the MBD5 gene on chromosome 2. __ Inheritance is autosomal dominant. Treatment depends on the symptoms and features present in each person.
For a comprehensive review of MBD25 Haploinsufficiency, you can visit GeneReviews. GeneReviews provides current, expert-authored, peer- reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Source: GARD Last updated on 05-01-20
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Spinal canal stenosis|
|Abnormal thrombocyte morphology|
|Abdominal situs inversus|
|Olfactory lobe agenesis|
|Wide anterior fontanel|
|Abnormality of the mediastinum|
|Absent cupid's bow|
|Cyst of the ductus choledochus|
|Progressive forearm bowing|
|Ectopic ossification in muscle tissue|
|Increased urinary cortisol level|
|Few cafe-au-lait spots|
|Increased endomysial connective tissue|
|Abnormal pulmonary valve morphology|
|Reduced subcutaneous adipose tissue|
|Abnormal morphology of female internal genitalia|
|Recurrent ear infections|
|Abnormality of the cardiovascular system|
|Elevated coagulation factor V activity|
|Irregular ossification of hand bones|
|Conspicuously happy disposition|
|Pelvic bone exostoses|
|Abnormal circulating citrulline concentration|
|Cone-shaped epiphyses of the middle phalanges of the hand|
|Decreased urinary sulfate|
|Sudden cardiac death|
|Corpus callosum atrophy|
|Mottled pigmentation of photoexposed areas|
|Cerebellar cortical atrophy|
|Expanded phalanges with widened medullary cavities|
|Oral melanotic macule|
|Narrowing of medullary canal|
|Hypoplasia of the pyramidal tract|
|Postnatal growth retardation|
|Biliary tract obstruction|
|Fetal akinesia sequence|
|Cherry red spot of the macula|
|Thin upper lip vermilion|
|Intermittent hyperpnea at rest|
|Abnormality of lower lip|
|Autosomal dominant inheritance|
|Downturned corners of mouth|
|Feeding difficulties in infancy|
|Highly arched eyebrow|
|Short attention span|
|Widely spaced teeth|
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