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Intellectual disability, X-linked, with or without seizures, arx-related(XLID29)

MedGen UID:
208681
•Concept ID:
C0796244
•
Disease or Syndrome
Synonyms: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29; MENTAL RETARDATION, X-LINKED 29; MENTAL RETARDATION, X-LINKED 32; MENTAL RETARDATION, X-LINKED 33; MENTAL RETARDATION, X-LINKED 38; MENTAL RETARDATION, X-LINKED 43; Mental retardation, X-linked 52; MENTAL RETARDATION, X-LINKED 76; MENTAL RETARDATION, X-LINKED 87; XLID29
 
Gene (location): ARX (Xp21.3)
 
Monarch Initiative: MONDO:0010317
OMIM®: 300419

Definition

Intellectual developmental disorder-29 (XLID29) is a nonspecific form of XLID. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (DEE1; 308350) to Partington syndrome (309510) (Kato et al., 2004; Wallerstein et al., 2008). [from OMIM]

Clinical features

From HPO
Urinary incontinence
MedGen UID:
22579
•Concept ID:
C0042024
•
Finding
Loss of the ability to control the urinary bladder leading to involuntary urination.
See: Feature record | Search on this feature
Testicular dysgenesis
MedGen UID:
86232
•Concept ID:
C0302885
•
Finding
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Babinski sign
MedGen UID:
19708
•Concept ID:
C0034935
•
Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Drooling
MedGen UID:
8484
•Concept ID:
C0013132
•
Finding
Habitual flow of saliva out of the mouth.
See: Feature record | Search on this feature
Long palpebral fissure
MedGen UID:
340300
•Concept ID:
C1849340
•
Finding
Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.
See: Feature record | Search on this feature
Periorbital fullness
MedGen UID:
1710990
•Concept ID:
C4760994
•
Finding
Increase in periorbital soft tissue.
See: Feature record | Search on this feature
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