Symbol
Name
ID

Mbd5
methyl-CpG binding domain protein 5
MGI:2138934

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Microcephaly

Secondary microcephaly

Drooling

Hypoplasia of the frontal lobes

Cerebellar vermis hypoplasia

Ataxia

Reduced eye contact

Language impairment

Anxiety

Inappropriate laughter

Reduced social reciprocity

Autistic behavior

Polyphagia

Aggressive behavior

Bruxism

Recurrent hand flapping

Self-injurious behavior

Short attention span

Intellectual disability

Intellectual disability, severe

Global developmental delay

Motor delay

Delayed ability to sit

Seizure

Febrile seizure (within the age range of 3 months to 6 years)

Disease(s) Associated with MBD5

autosomal dominant intellectual developmental disorder 1

Mouse Phenotypes		small pituitary gland	increased brain weight	abnormal neurite morphology
Availability	Mouse Genotype	small pituitary gland	increased brain weight	abnormal neurite morphology
	Mbd5^tm1.2Gxu/Mbd5^tm1.2Gxu
	Mbd5^{Gt(Ayu21-B205)Imeg}/Mbd5⁺

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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