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Intellectual disability, X-linked 30(XLID30)

MedGen UID:
163235
Concept ID:
C0796237
Disease or Syndrome
Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30; MENTAL RETARDATION, X-LINKED 47; XLID30
 
Gene (location): PAK3 (Xq23)
 
Monarch Initiative: MONDO:0010361
OMIM®: 300558

Definition

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene. [from MONDO]

Clinical features

From HPO
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).
Macrotia
MedGen UID:
488785
Concept ID:
C0152421
Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
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).
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
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 characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Agitation
MedGen UID:
88447
Concept ID:
C0085631
Sign or Symptom
A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension.
Clumsiness
MedGen UID:
66690
Concept ID:
C0233844
Sign or Symptom
Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.
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.
Short attention span
MedGen UID:
82652
Concept ID:
C0262630
Finding
Reduced attention span characterized by distractibility and impulsivity.
Hyperactivity
MedGen UID:
98406
Concept ID:
C0424295
Finding
Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.
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.
Delayed gross motor development
MedGen UID:
332508
Concept ID:
C1837658
Finding
A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
Poor speech
MedGen UID:
341172
Concept ID:
C1848207
Finding
Brisk reflexes
MedGen UID:
382164
Concept ID:
C2673700
Finding
Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Restlessness
MedGen UID:
854457
Concept ID:
C3887611
Sign or Symptom
A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.
Generalized non-motor (absence) seizure
MedGen UID:
1385688
Concept ID:
C4316903
Disease or Syndrome
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.
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.
Drooling
MedGen UID:
8484
Concept ID:
C0013132
Finding
Habitual flow of saliva out of the mouth.
Open mouth
MedGen UID:
116104
Concept ID:
C0240379
Finding
A facial appearance characterized by a permanently or nearly permanently opened mouth.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (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.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Prominent supraorbital ridges
MedGen UID:
333982
Concept ID:
C1842060
Finding
Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.
Thick upper lip vermilion
MedGen UID:
339521
Concept ID:
C1846423
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).
Flat face
MedGen UID:
342829
Concept ID:
C1853241
Finding
Absence of concavity or convexity of the face when viewed in profile.
Prominent nasal bridge
MedGen UID:
343051
Concept ID:
C1854113
Finding
Anterior positioning of the nasal root in comparison to the usual positioning for age.
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Sloping forehead
MedGen UID:
346640
Concept ID:
C1857679
Finding
Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Prominent fingertip pads
MedGen UID:
322758
Concept ID:
C1835807
Finding
A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.

Professional guidelines

PubMed

Gujral J, Sethuram S
Curr Opin Endocrinol Diabetes Obes 2023 Feb 1;30(1):44-51. Epub 2022 Nov 14 doi: 10.1097/MED.0000000000000782. PMID: 36373727
Kloesel B, Dua N, Eskuri R, Hall J, Cohen M, Richtsfeld M, Belani K
Paediatr Anaesth 2020 Feb;30(2):124-136. Epub 2019 Dec 26 doi: 10.1111/pan.13786. PMID: 31841242
Bessey A, Chilcott JB, Leaviss J, Sutton A
Orphanet J Rare Dis 2018 Oct 11;13(1):179. doi: 10.1186/s13023-018-0921-4. PMID: 30309370Free PMC Article

Recent clinical studies

Etiology

Bonkowsky JL, Wilkes J
J Child Neurol 2022 Apr;37(5):397-400. Epub 2022 Mar 3 doi: 10.1177/08830738221081141. PMID: 35238239Free PMC Article
Hong KN, Battikha C, John S, Lin A, Bui QM, Brambatti M, Storm G, Boynton K, Medina-Hernandez D, Garcia-Alvarez A, Castel MA, Garcia-Guereta L, Diez Lopez C, Perez-Gomez L, Miani D, Symanski JD, Taylor MR, Garcia-Pavia P, Adler ED
J Card Fail 2022 Apr;28(4):664-669. Epub 2021 Nov 11 doi: 10.1016/j.cardfail.2021.11.007. PMID: 34775111
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS
Epilepsy Res 2021 Feb;170:106530. Epub 2020 Dec 9 doi: 10.1016/j.eplepsyres.2020.106530. PMID: 33508693
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
Lisik MZ, Sieron AL
Med Sci Monit 2008 Nov;14(11):RA221-9. PMID: 18971887

Diagnosis

Gujral J, Sethuram S
Curr Opin Endocrinol Diabetes Obes 2023 Feb 1;30(1):44-51. Epub 2022 Nov 14 doi: 10.1097/MED.0000000000000782. PMID: 36373727
Bonkowsky JL, Wilkes J
J Child Neurol 2022 Apr;37(5):397-400. Epub 2022 Mar 3 doi: 10.1177/08830738221081141. PMID: 35238239Free PMC Article
Chiurazzi P, Kiani AK, Miertus J, Paolacci S, Barati S, Manara E, Stuppia L, Gurrieri F, Bertelli M
Acta Biomed 2020 Nov 9;91(13-S):e2020003. doi: 10.23750/abm.v91i13-S.10684. PMID: 33170170Free PMC Article
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R
JAMA Psychiatry 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. PMID: 28097321
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

Therapy

Flores Gutiérrez J, Natali G, Giorgi J, De Leonibus E, Tongiorgi E
Exp Neurol 2022 Jul;353:114056. Epub 2022 Mar 28 doi: 10.1016/j.expneurol.2022.114056. PMID: 35358499
Flores Gutiérrez J, De Felice C, Natali G, Leoncini S, Signorini C, Hayek J, Tongiorgi E
J Neurodev Disord 2020 Sep 28;12(1):26. doi: 10.1186/s11689-020-09328-z. PMID: 32988385Free PMC Article
Zain R, Smith CIE
Neurotherapeutics 2019 Apr;16(2):248-262. doi: 10.1007/s13311-019-00712-9. PMID: 31098852Free PMC Article
Jiang MY, Cai YN, Liang CL, Peng MZ, Sheng HY, Fan LP, Lin RZ, Jiang H, Huang Y, Liu L
Metab Brain Dis 2015 Dec;30(6):1439-44. Epub 2015 Aug 12 doi: 10.1007/s11011-015-9717-6. PMID: 26260157
Brown RM, Brown GK
J Med Genet 1993 Mar;30(3):177-84. doi: 10.1136/jmg.30.3.177. PMID: 8097254Free PMC Article

Prognosis

Gujral J, Sethuram S
Curr Opin Endocrinol Diabetes Obes 2023 Feb 1;30(1):44-51. Epub 2022 Nov 14 doi: 10.1097/MED.0000000000000782. PMID: 36373727
Schäfer L, Roicke H, Fischer M, Sühnel A, Köhler W
Ann Neurol 2021 Aug;90(2):266-273. Epub 2021 Jun 26 doi: 10.1002/ana.26141. PMID: 34105176
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS
Epilepsy Res 2021 Feb;170:106530. Epub 2020 Dec 9 doi: 10.1016/j.eplepsyres.2020.106530. PMID: 33508693
Tønne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T
Eur J Hum Genet 2015 Dec;23(12):1652-6. Epub 2015 Mar 4 doi: 10.1038/ejhg.2015.30. PMID: 25735484Free PMC Article
Lisik MZ, Sieron AL
Med Sci Monit 2008 Nov;14(11):RA221-9. PMID: 18971887

Clinical prediction guides

Schäfer L, Roicke H, Fischer M, Sühnel A, Köhler W
Ann Neurol 2021 Aug;90(2):266-273. Epub 2021 Jun 26 doi: 10.1002/ana.26141. PMID: 34105176
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS
Epilepsy Res 2021 Feb;170:106530. Epub 2020 Dec 9 doi: 10.1016/j.eplepsyres.2020.106530. PMID: 33508693
Zhang J, Ban T, Zhou L, Ji H, Yan H, Shi Z, Cao B, Jiang Y, Wang J, Wu Y
J Neurol 2020 Sep;267(9):2612-2618. Epub 2020 May 9 doi: 10.1007/s00415-020-09889-y. PMID: 32388833
Tønne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T
Eur J Hum Genet 2015 Dec;23(12):1652-6. Epub 2015 Mar 4 doi: 10.1038/ejhg.2015.30. PMID: 25735484Free PMC Article
Ho HZ, Glahn TJ, Ho JC
Dev Med Child Neurol 1988 Apr;30(2):257-61. doi: 10.1111/j.1469-8749.1988.tb04760.x. PMID: 3290015

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