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Baralle-Macken syndrome(BARMACS)

MedGen UID:
Concept ID:
Disease or Syndrome
Gene (location): COPB1 (11p15.2)
Monarch Initiative: MONDO:0031002
OMIM®: 619255


Baralle-Macken syndrome (BARMACS) is an autosomal recessive disorder characterized by global developmental delay apparent from infancy, difficulty walking or inability to walk, and impaired intellectual development with poor or absent speech. Affected individuals develop early-onset cataracts; some may have microcephaly. Additional more variable features may include dysmorphic facial features, metabolic abnormalities, spasticity, and lymphopenia (summary by Macken et al., 2021). [from OMIM]

Clinical features

From HPO
Urinary incontinence
MedGen UID:
Concept ID:
Loss of the ability to control the urinary bladder leading to involuntary urination.
Pes planus
MedGen UID:
Concept ID:
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.
Tapered finger
MedGen UID:
Concept ID:
The gradual reduction in girth of the finger from proximal to distal.
MedGen UID:
Concept ID:
Disease or Syndrome
Accumulation of substantial excess body fat.
Dystonic disorder
MedGen UID:
Concept ID:
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
MedGen UID:
Concept ID:
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Intellectual disability, severe
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
MedGen UID:
Concept ID:
Disease or Syndrome
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Delayed ability to walk
MedGen UID:
Concept ID:
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.
Global brain atrophy
MedGen UID:
Concept ID:
Pathologic Function
Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.
Delayed speech and language development
MedGen UID:
Concept ID:
A degree of language development that is significantly below the norm for a child of a specified age.
Inability to walk
MedGen UID:
Concept ID:
Incapability to ambulate.
Focal-onset seizure
MedGen UID:
Concept ID:
Disease or Syndrome
A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.
Absent speech
MedGen UID:
Concept ID:
Complete lack of development of speech and language abilities.
MedGen UID:
Concept ID:
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Neonatal hypotonia
MedGen UID:
Concept ID:
Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
MedGen UID:
Concept ID:
Head circumference below 2 standard deviations below the mean for age and gender.
Upslanted palpebral fissure
MedGen UID:
Concept ID:
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.
High, narrow palate
MedGen UID:
Concept ID:
The presence of a high and narrow palate.
Acanthosis nigricans
MedGen UID:
Concept ID:
Disease or Syndrome
A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.
MedGen UID:
Concept ID:
Disease or Syndrome
Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
Striae distensae
MedGen UID:
Concept ID:
Acquired Abnormality
Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.
Cafe-au-lait spot
MedGen UID:
Concept ID:
Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
MedGen UID:
Concept ID:
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Professional guidelines


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Recent clinical studies


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Clinical prediction guides

Robles Bayón A
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Recent systematic reviews

Freitas DA, Souza-Santos R, Carvalho LMA, Barros WB, Neves LM, Brasil P, Wakimoto MD
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