Harmonizome 3.0

mental retardation, non-syndromic, autosomal recessive, 28

Mental retardation, autosomal recessive 29

mental retardation, non-syndromic, autosomal recessive, 24

mental retardation, non-syndromic, autosomal recessive, 23

mental retardation, non-syndromic, autosomal recessive, 10

fragile X mental retardation 1

The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]

fragile X mental retardation associated 3

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

fragile X mental retardation, autosomal homolog 1

The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

fragile X mental retardation, autosomal homolog 2

The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X cognitive disability syndrome. [provided by RefSeq, Jul 2008]

alpha-thalassemia/mental retardation syndrome, type 1

Mental health wellness 2

Mental health wellness 1

mental retardation, non-syndromic, autosomal recessive, 17

Mental retardation, autosomal recessive 16

mental retardation, non-syndromic, autosomal recessive, 11

mental retardation, non-syndromic, autosomal recessive, 19

cubitus valgus with mental retardation and unusual facies

mental retardation, non-syndromic, autosomal recessive, 8

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis

mental retardation, non-syndromic, autosomal recessive, 9

fragile X mental retardation, autosomal homolog 1 pseudogene

Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome

nuclear fragile X mental retardation protein interacting protein 2

Enables RNA binding activity. Located in several cellular components, including cytoplasmic stress granule; nuclear body; and ribosome. [provided by Alliance of Genome Resources, Mar 2025]

nuclear fragile X mental retardation protein interacting protein 1

This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012]

mental retardation, non-syndromic, autosomal recessive, 25

mental retardation, non-syndromic, autosomal recessive, 4

Alopecia-mental retardation syndrome 3

Alopecia with mental retardation syndrome 2

Alopecia-mental retardation syndrome

Choroideremia, deafness, and mental retardation

ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)

This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]

Mental retardation, autosomal recessive 33

Mental retardation, autosomal recessive 32

Mental retardation, autosomal recessive 31

Mental retardation, autosomal recessive 30

Mental retardation, autosomal recessive 35

mental retardation, non-syndromic, autosomal recessive, 27

nuclear fragile X mental retardation protein interacting protein 1 pseudogene

mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome

Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations

Martin-Probst deafness-mental retardation syndrome

fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)

Cerebellar hypoplasia, mental retardation, and quadrupedal locomotion

Gustavson mental retardation syndrome (with microcephaly, optic

mental retardation-skeletal dysplasia

Mental retardation, severe, with spasticity and tapetoretinal

anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities)

fragile X mental retardation 1 neighbor

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]