Distal monosomy 6p

Also known as: 6p subtelomeric deletion syndrome, 6p25 microdeletion syndrome, Distal deletion 6p, Monosomy 6p25

Definition

Orphanet

Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound.
Hearing abnormality Abnormal hearing An abnormality of the sensory perception of sound.
Abnormal facial shape Dysmorphic facial features, Facial Dysmorphism, Deformity of face, Distortion of face, Unusual facial appearance, Funny looking face, Dysmorphic facies, Unusual facies, Malformation of face, Abnormal morphology of the face, Distinctive facies [more] An abnormal morphology (form) of the face or its components.

Other Classifiers and IDs