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Intellectual developmental disorder, autosomal recessive 67(MRT67)

MedGen UID:
1648350
Concept ID:
C4749019
Disease or Syndrome
Synonym: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 67
 
Gene (location): EIF3F (11p15.4)
 
Monarch Initiative: MONDO:0032662
OMIM®: 618295

Clinical features

From HPO
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Meningioma
MedGen UID:
7532
Concept ID:
C0025286
Neoplastic Process
The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
Psychotic disorder
MedGen UID:
19568
Concept ID:
C0033975
Mental or Behavioral Dysfunction
A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Sleep abnormality
MedGen UID:
52372
Concept ID:
C0037317
Finding
An abnormal pattern in the quality, quantity, or characteristics of sleep.
Delayed ability to walk
MedGen UID:
66034
Concept ID:
C0241726
Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Developmental regression
MedGen UID:
324613
Concept ID:
C1836830
Disease or Syndrome
Loss of developmental skills, as manifested by loss of developmental milestones.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Delayed ability to sit
MedGen UID:
1368737
Concept ID:
C4476710
Finding
A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Congenital ocular coloboma
MedGen UID:
1046
Concept ID:
C0009363
Congenital Abnormality
Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain.\n\nColobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. Colobomas affecting the iris, which result in a "keyhole" appearance of the pupil, generally do not lead to vision loss. Colobomas involving the retina result in vision loss in specific parts of the visual field. Large retinal colobomas or those affecting the optic nerve can cause low vision, which means vision loss that cannot be completely corrected with glasses or contact lenses.\n\nSome people with coloboma also have a condition called microphthalmia. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with coloboma may also have other eye abnormalities, including clouding of the lens of the eye (cataract), increased pressure inside the eye (glaucoma) that can damage the optic nerve, vision problems such as nearsightedness (myopia), involuntary back-and-forth eye movements (nystagmus), or separation of the retina from the back of the eye (retinal detachment).\n\nColobomas involving the eyeball should be distinguished from gaps that occur in the eyelids. While these eyelid gaps are also called colobomas, they arise from abnormalities in different structures during early development.\n\nSome individuals have coloboma as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When coloboma occurs by itself, it is described as nonsyndromic or isolated.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

Professional guidelines

PubMed

Seeman P, Gebertová K, Paderová K, Sperling K, Seemanová E
Pediatr Neurol 2004 Mar;30(3):195-200. doi: 10.1016/j.pediatrneurol.2003.07.003. PMID: 15033202
Neuhäuser G, Opitz JM
Z Kinderheilkd 1975 Nov 13;120(4):231-42. doi: 10.1007/BF00440262. PMID: 1189520

Recent clinical studies

Etiology

Whitney R, Jain P, RamachandranNair R, Jones KC, Kiani H, Tarnopolsky M, Meaney B
Epilepsia Open 2023 Jun;8(2):623-632. Epub 2023 Apr 24 doi: 10.1002/epi4.12747. PMID: 37067065Free PMC Article
Pekeles H, Accogli A, Boudrahem-Addour N, Russell L, Parente F, Srour M
Pediatr Neurol 2019 Mar;92:32-36. Epub 2018 Nov 22 doi: 10.1016/j.pediatrneurol.2018.11.005. PMID: 30581057
Klebe S, Stevanin G, Depienne C
Rev Neurol (Paris) 2015 Jun-Jul;171(6-7):505-30. Epub 2015 May 23 doi: 10.1016/j.neurol.2015.02.017. PMID: 26008818
Seeman P, Gebertová K, Paderová K, Sperling K, Seemanová E
Pediatr Neurol 2004 Mar;30(3):195-200. doi: 10.1016/j.pediatrneurol.2003.07.003. PMID: 15033202
Mäenpää J
Arch Dis Child 1972 Dec;47(256):914-23. doi: 10.1136/adc.47.256.914. PMID: 4119068Free PMC Article

Diagnosis

Shchelochkov OA, Farmer CA, Chlebowski C, Adedipe D, Ferry S, Manoli I, Pass A, McCoy S, Van Ryzin C, Sloan J, Thurm A, Venditti CP
Mol Psychiatry 2024 Apr;29(4):974-981. Epub 2024 Jan 11 doi: 10.1038/s41380-023-02385-5. PMID: 38200289Free PMC Article
Al-Yaarubi S, Al-Abri AS, Al-Kindi H, Al-Abri M, Naz T, Khater D
Sleep Breath 2022 Jun;26(2):815-821. Epub 2021 Aug 9 doi: 10.1007/s11325-021-02463-4. PMID: 34368942
Pekeles H, Accogli A, Boudrahem-Addour N, Russell L, Parente F, Srour M
Pediatr Neurol 2019 Mar;92:32-36. Epub 2018 Nov 22 doi: 10.1016/j.pediatrneurol.2018.11.005. PMID: 30581057
Klebe S, Stevanin G, Depienne C
Rev Neurol (Paris) 2015 Jun-Jul;171(6-7):505-30. Epub 2015 May 23 doi: 10.1016/j.neurol.2015.02.017. PMID: 26008818
Mäenpää J
Arch Dis Child 1972 Dec;47(256):914-23. doi: 10.1136/adc.47.256.914. PMID: 4119068Free PMC Article

Therapy

Zlotogora J
Hum Genet 2010 Nov;128(5):473-9. Epub 2010 Sep 18 doi: 10.1007/s00439-010-0890-8. PMID: 20852892

Prognosis

Zhang X, Han Y, Yang L, Xu N, Zhu L, Qiu S, Li Y, Xu L, Yu X
Seizure 2024 Jan;114:111-120. Epub 2023 Dec 14 doi: 10.1016/j.seizure.2023.12.008. PMID: 38134649
Xie F, Chen S, Liu P, Chen X, Luo W
J Hum Genet 2022 Mar;67(3):165-168. Epub 2021 Sep 16 doi: 10.1038/s10038-021-00975-1. PMID: 34526651
Kong W, Meng Y, Zou L, Yang G, Wang J, Shi X
J Pediatr Endocrinol Metab 2020 May 24;33(6):793-802. doi: 10.1515/jpem-2019-0505. PMID: 32447333
Bohlega S, Abusrair AH, Al-Ajlan FS, Alharbi N, Al-Semari A, Bohlega B, Abualsaud D, Alkuraya F
Parkinsonism Relat Disord 2019 Dec;69:99-103. Epub 2019 Oct 13 doi: 10.1016/j.parkreldis.2019.10.007. PMID: 31726291
Mäenpää J
Arch Dis Child 1972 Dec;47(256):914-23. doi: 10.1136/adc.47.256.914. PMID: 4119068Free PMC Article

Clinical prediction guides

Shchelochkov OA, Farmer CA, Chlebowski C, Adedipe D, Ferry S, Manoli I, Pass A, McCoy S, Van Ryzin C, Sloan J, Thurm A, Venditti CP
Mol Psychiatry 2024 Apr;29(4):974-981. Epub 2024 Jan 11 doi: 10.1038/s41380-023-02385-5. PMID: 38200289Free PMC Article
Yang Q, Qin Z, Zhang Q, Yi S, Yi S, Luo J
BMC Med Genomics 2022 Mar 23;15(1):67. doi: 10.1186/s12920-022-01217-9. PMID: 35321723Free PMC Article
Al-Yaarubi S, Al-Abri AS, Al-Kindi H, Al-Abri M, Naz T, Khater D
Sleep Breath 2022 Jun;26(2):815-821. Epub 2021 Aug 9 doi: 10.1007/s11325-021-02463-4. PMID: 34368942
Paulraj P, Bosworth M, Longhurst M, Hornbuckle C, Gotway G, Lamb AN, Andersen EF
Cytogenet Genome Res 2019;159(1):19-25. Epub 2019 Sep 6 doi: 10.1159/000502598. PMID: 31487712
Zlotogora J
Hum Genet 2010 Nov;128(5):473-9. Epub 2010 Sep 18 doi: 10.1007/s00439-010-0890-8. PMID: 20852892

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