[…] and hypogenitalism, microcephaly, and obesity Mental retardation, X-linked, syndromic, Borck type Mental retardation, X-linked, syndromic 20 Mental retardation, X-linked, syndromic 25 MRXS20 MRXS25 MRXSBRK Keywords Any medical or genetic information present [uniprot.org]

Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. [rarediseases.info.nih.gov]

• Developmental Delay

  […] puberty Delayed pubertal development Delayed pubertal growth Pubertal delay [ more ] 0000823 Delayed speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech [rarediseases.info.nih.gov]

• Difficulty Walking

  Speech delay [ more ] 0000750 Depressed nasal tip Caved in nasal tip Depressed tip of nose Flat nasal tip Flat tip of nose Flattened nasal tip Nasal tip, depressed [ more ] 0000437 Difficulty walking Difficulty in walking 0002355 Drooling Dribbling 0002307 [rarediseases.info.nih.gov]

• Widely Spaced Teeth

  spaced teeth Wide-spaced teeth Widely-spaced teeth [ more ] 0000687 X-linked recessive inheritance 0001419 Showing of 59 | Last updated: 2/1/2021 Find a Specialist Find a Specialist If you need medical advice, you can look for doctors or other healthcare [rarediseases.info.nih.gov]

• Strabismus

  Large ears 0000400 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Open mouth Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ] 0000194 Poor speech 0002465 Spastic tetraparesis 0001285 Strabismus [rarediseases.info.nih.gov]

• Macrotia

  […] nonspecific Mental-retardation [ more ] 0001249 Long face Elongation of face Increased height of face Increased length of face Vertical elongation of face Vertical enlargement of face Vertical overgrowth of face [ more ] 0000276 Long philtrum 0000343 Macrotia [rarediseases.info.nih.gov]

• Round Face

  face Circular face Round facial appearance Round facial shape [ more ] 0000311 Severe global developmental delay 0011344 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Thick vermilion border Full lips Increased volume of lip Plump [rarediseases.info.nih.gov]

• Downturned Corners of the Mouth

  corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Full cheeks Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ] 0000293 Hyperreflexia Increased reflexes 0001347 Hypertonia 0001276 Muscular hypotonia [rarediseases.info.nih.gov]

• Thick Lips

  […] vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 30%-79% of people have these symptoms Agitation 0000713 Downturned corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 [rarediseases.info.nih.gov]

• Aggressive Behavior

  behavior Aggression Aggressive behaviour Aggressiveness [ more ] 0000718 Babinski sign 0003487 Broad nasal tip Broad tip of nose Broad, upturned nose Increased breadth of nasal tip Increased breadth of tip of nose Increased width of nasal tip Increased [rarediseases.info.nih.gov]

• Cryptorchidism

  Showing of 59 | Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 EEG abnormality 0002353 Growth delay Delayed growth Growth deficiency Growth failure [rarediseases.info.nih.gov]

• Delayed Speech and Language Development

  development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties [rarediseases.info.nih.gov]

• Hyperreflexia

  0012471 30%-79% of people have these symptoms Agitation 0000713 Downturned corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Full cheeks Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ] 0000293 Hyperreflexia [rarediseases.info.nih.gov]

• Gait Ataxia

  […] delay [ more ] 0000750 Depressed nasal tip Caved in nasal tip Depressed tip of nose Flat nasal tip Flat tip of nose Flattened nasal tip Nasal tip, depressed [ more ] 0000437 Difficulty walking Difficulty in walking 0002355 Drooling Dribbling 0002307 Gait [rarediseases.info.nih.gov]

• Language Delays

  […] development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties [rarediseases.info.nih.gov]

• Babinski Sign

  Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. [rarediseases.info.nih.gov]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Type; Mrxsbrk 57 Mental Retardation, X-Linked, Syndromic 20; Mrxs20 57 Mental Retardation, X-Linked, Syndromic 25; Mrxs25 57 Syndromic X-Linked Mental Retardation 20 12 Syndromic X-Linked Mental Retardation 25 12 X-Linked Mehmo Syndrome 20 Orphanet epidemiological [malacards.org]

A TC readily binds the scanning 40S subunit enabling reinitiation at one of the subsequent inhibitory uORFs (uORFs2-4), which prevents ribosomes from scanning to the GCN4 main ORF (mORF) and synthesizing GCN4 protein. [academic.oup.com]