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Intellectual disability, autosomal dominant 30(MRD30)

MedGen UID:
863604
Concept ID:
C4015167
Disease or Syndrome
Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; MRD30
 
Gene (location): ZMYND11 (10p15.3)
 
Monarch Initiative: MONDO:0014486
OMIM®: 616083

Definition

Autosomal dominant intellectual developmental disorder-30 with speech delay and behavioral abnormalities (MRD30) is characterized by developmental delay apparent from early infancy. Cognitive impairment is variable; many patients are able to attend special schools. Behavioral abnormalities, including ADHD, autistic features, and aggression are commonly observed. Additional features may include various types of seizures, hypotonia, mild skeletal defects, feeding difficulties, and dysmorphic features (Yates et al., 2020; Oates et al., 2021). [from OMIM]

Clinical features

From HPO
Overfolded helix
MedGen UID:
325239
Concept ID:
C1837731
Finding
A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
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.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
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.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Reduced social responsiveness
MedGen UID:
868342
Concept ID:
C4022736
Finding
A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication.
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.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Wide mouth
MedGen UID:
44238
Concept ID:
C0024433
Congenital Abnormality
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Upslanted palpebral fissure
MedGen UID:
98390
Concept ID:
C0423109
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Synophrys
MedGen UID:
98132
Concept ID:
C0431447
Congenital Abnormality
Meeting of the medial eyebrows in the midline.
Supernumerary nipple
MedGen UID:
120564
Concept ID:
C0266011
Congenital Abnormality
Presence of more than two nipples.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Professional guidelines

PubMed

Mishra S, Girisha KM, Shukla A
Clin Dysmorphol 2021 Jan;30(1):1-5. doi: 10.1097/MCD.0000000000000360. PMID: 33229923Free PMC Article
Tafazoli A, Eshraghi P, Pantaleoni F, Vakili R, Moghaddassian M, Ghahraman M, Muto V, Paolacci S, Golyan FF, Abbaszadegan MR
Adv Med Sci 2018 Mar;63(1):87-93. Epub 2017 Sep 26 doi: 10.1016/j.advms.2017.07.001. PMID: 28957739

Recent clinical studies

Etiology

Mohan P, Lemoine J, Trotter C, Rakova I, Billings P, Peacock S, Kao CY, Wang Y, Xia F, Eng CM, Benn P
Ultrasound Obstet Gynecol 2022 Jan;59(1):33-39. doi: 10.1002/uog.23756. PMID: 34358384Free PMC Article
Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V; Undiagnosed Diseases Network, Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C
Hum Genet 2021 Jul;140(7):1109-1120. Epub 2021 May 4 doi: 10.1007/s00439-021-02283-2. PMID: 33944996Free PMC Article
Bounakis N, Karampalis C, Sharp H, Tsirikos AI
J Med Case Rep 2015 Jan 18;9:10. doi: 10.1186/1752-1947-9-10. PMID: 25596810Free PMC Article
Musante L, Ropers HH
Trends Genet 2014 Jan;30(1):32-9. Epub 2013 Oct 28 doi: 10.1016/j.tig.2013.09.008. PMID: 24176302
McDonald CM, Johnson ER, Abresch RT, Carter GT, Fowler WM Jr, Kilmer DD
Am J Phys Med Rehabil 1995 Sep-Oct;74(5 Suppl):S117-30. doi: 10.1097/00002060-199509001-00006. PMID: 7576419

Diagnosis

Mohan P, Lemoine J, Trotter C, Rakova I, Billings P, Peacock S, Kao CY, Wang Y, Xia F, Eng CM, Benn P
Ultrasound Obstet Gynecol 2022 Jan;59(1):33-39. doi: 10.1002/uog.23756. PMID: 34358384Free PMC Article
Raviglione F, Douzgou S, Scala M, Mingarelli A, D'Arrigo S, Freri E, Darra F, Giglio S, Bonaglia MC, Pantaleoni C, Mastrangelo M, Epifanio R, Elia M, Saletti V, Morlino S, Vari MS, De Liso P, Pavaine J, Spaccini L, Cattaneo E, Gardella E, Møller RS, Marchese F, Colonna C, Gandioli C, Gobbi G, Ram D, Palumbo O, Carella M, Germano M, Tonduti D, De Angelis D, Caputo D, Bergonzini P, Novara F, Zuffardi O, Verrotti A, Orsini A, Bonuccelli A, De Muto MC, Trivisano M, Vigevano F, Granata T, Bernardina BD, Tranchina A, Striano P
Seizure 2021 May;88:60-72. Epub 2021 Mar 30 doi: 10.1016/j.seizure.2021.03.025. PMID: 33831796
Sammour ZM, Gomes CM, de Bessa J Jr, Pinheiro MS, Kim CA, Hisano M, Bruschini H, Srougi M
J Pediatr Urol 2014 Oct;10(5):804-9. Epub 2014 Feb 13 doi: 10.1016/j.jpurol.2014.01.013. PMID: 24582571
Musante L, Ropers HH
Trends Genet 2014 Jan;30(1):32-9. Epub 2013 Oct 28 doi: 10.1016/j.tig.2013.09.008. PMID: 24176302
McDonald CM, Johnson ER, Abresch RT, Carter GT, Fowler WM Jr, Kilmer DD
Am J Phys Med Rehabil 1995 Sep-Oct;74(5 Suppl):S117-30. doi: 10.1097/00002060-199509001-00006. PMID: 7576419

Therapy

Iulita MF, Garzón Chavez D, Klitgaard Christensen M, Valle Tamayo N, Plana-Ripoll O, Rasmussen SA, Roqué Figuls M, Alcolea D, Videla L, Barroeta I, Benejam B, Altuna M, Padilla C, Pegueroles J, Fernandez S, Belbin O, Carmona-Iragui M, Blesa R, Lleó A, Bejanin A, Fortea J
JAMA Netw Open 2022 May 2;5(5):e2212910. doi: 10.1001/jamanetworkopen.2022.12910. PMID: 35604690Free PMC Article
Hetzelt KLML, Kerling F, Kraus C, Rauch C, Thiel CT, Winterholler M, Reis A, Zweier C
Eur J Med Genet 2021 Jan;64(1):104123. Epub 2020 Dec 15 doi: 10.1016/j.ejmg.2020.104123. PMID: 33338668
Matevosyan NR
Arch Gynecol Obstet 2016 Jan;293(1):87-99. Epub 2015 Jun 11 doi: 10.1007/s00404-015-3770-6. PMID: 26063342
Miyajima T, Kumada T, Saito K, Fujii T
Brain Dev 2013 Feb;35(2):155-7. Epub 2012 Aug 9 doi: 10.1016/j.braindev.2012.07.012. PMID: 22883468

Prognosis

Iulita MF, Garzón Chavez D, Klitgaard Christensen M, Valle Tamayo N, Plana-Ripoll O, Rasmussen SA, Roqué Figuls M, Alcolea D, Videla L, Barroeta I, Benejam B, Altuna M, Padilla C, Pegueroles J, Fernandez S, Belbin O, Carmona-Iragui M, Blesa R, Lleó A, Bejanin A, Fortea J
JAMA Netw Open 2022 May 2;5(5):e2212910. doi: 10.1001/jamanetworkopen.2022.12910. PMID: 35604690Free PMC Article
Hetzelt KLML, Kerling F, Kraus C, Rauch C, Thiel CT, Winterholler M, Reis A, Zweier C
Eur J Med Genet 2021 Jan;64(1):104123. Epub 2020 Dec 15 doi: 10.1016/j.ejmg.2020.104123. PMID: 33338668
Rudenskaya GE, Kadnikova VA, Ryzhkova OP, Bessonova LA, Dadali EL, Guseva DS, Markova TV, Khmelkova DN, Polyakov AV
BMC Neurol 2020 Aug 3;20(1):290. doi: 10.1186/s12883-020-01872-4. PMID: 32746806Free PMC Article
Negri G, Magini P, Milani D, Crippa M, Biamino E, Piccione M, Sotgiu S, Perrìa C, Vitiello G, Frontali M, Boni A, Di Fede E, Gandini MC, Colombo EA, Bamshad MJ, Nickerson DA, Smith JD, Loddo I, Finelli P, Seri M, Pippucci T, Larizza L, Gervasini C
Hum Genet 2019 Mar;138(3):257-269. Epub 2019 Feb 26 doi: 10.1007/s00439-019-01985-y. PMID: 30806792Free PMC Article
Bounakis N, Karampalis C, Sharp H, Tsirikos AI
J Med Case Rep 2015 Jan 18;9:10. doi: 10.1186/1752-1947-9-10. PMID: 25596810Free PMC Article

Clinical prediction guides

Ballesta-Martínez MJ, Pérez-Fernández V, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Rodríguez-Peña LI, Barreda-Sánchez M, Armengol-Dulcet L, Guillén-Navarro E
Orphanet J Rare Dis 2023 Jul 21;18(1):201. doi: 10.1186/s13023-023-02809-z. PMID: 37480025Free PMC Article
Glinsky GV
Mol Genet Genomics 2022 Nov;297(6):1711-1740. Epub 2022 Sep 19 doi: 10.1007/s00438-022-01954-7. PMID: 36121513Free PMC Article
Mohan P, Lemoine J, Trotter C, Rakova I, Billings P, Peacock S, Kao CY, Wang Y, Xia F, Eng CM, Benn P
Ultrasound Obstet Gynecol 2022 Jan;59(1):33-39. doi: 10.1002/uog.23756. PMID: 34358384Free PMC Article
Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V; Undiagnosed Diseases Network, Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C
Hum Genet 2021 Jul;140(7):1109-1120. Epub 2021 May 4 doi: 10.1007/s00439-021-02283-2. PMID: 33944996Free PMC Article
Negri G, Magini P, Milani D, Crippa M, Biamino E, Piccione M, Sotgiu S, Perrìa C, Vitiello G, Frontali M, Boni A, Di Fede E, Gandini MC, Colombo EA, Bamshad MJ, Nickerson DA, Smith JD, Loddo I, Finelli P, Seri M, Pippucci T, Larizza L, Gervasini C
Hum Genet 2019 Mar;138(3):257-269. Epub 2019 Feb 26 doi: 10.1007/s00439-019-01985-y. PMID: 30806792Free PMC Article

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