Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and [books.google.com]

*Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians. [medscape.org]

In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

Edge;Sync-n-Scale;mCharts Received income in an amount equal to or greater than 250 from: The Physicians Edge, Cliexa Received stock from RxRevu; Received ownership interest from Cerescan for consulting;. [emedicine.medscape.com]

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. Am J Hum Genet. 2016 Dec 1;99(6):1388-1394. [disorders.eyes.arizona.edu]

Corresponds to variant dbSNP:rs149617956 Ensembl. 1 Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD) The disease is caused by mutations affecting the gene represented in this entry. [uniprot.org]

Test Registry Albinism, Oculocutaneous, Type VI OCA6 113750 Genetic Test Registry Albinism, Oculocutaneous, Type VII OCA7 615179 Genetic Test Registry Chediak-Higashi Syndrome CHS 214500 Genetic Test Registry Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly [ukgtn.nhs.uk]

DISEASE: Melanoma, cutaneous malignant 8 (CMM8) : An autosomal CC recessive syndrome characterized by severe microphthalmia, CC profound congenital sensorineural hearing loss, lack of pigment in CC the hair, skin, and eyes, macrocephaly, facial dysmorphism [genome.jp]

[…] specific gene site of interest used for specific localization of gene direct visualization of anomalies (microdeletion) at the molecular level (when deletion is too small to be visualized in karyotype) cerebral gigiantism high birthweight advance bone age macrocephaly [quizlet.com]

Also characteristic are the white forelock, poliosis, and hypopigmented skin patches. [disorders.eyes.arizona.edu]

Other clinical manifestations (e.g. white forelock, skin patches) are more frequent in type I. Type III Waardenburg syndrome (Klein-Waardenburg syndrome) is similar to type I but is also characterized by musculoskeletal abnormalities 3,4. [centogene.com]

Page 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‎ [books.google.com]

The head circumference one one patient was consistent with macrocephaly accompanied by frontal bossing, shallow orbits, preauricular pits and posteriorly rotated ears. A skeletal survey revealed evidence for osteopetrosis. [disorders.eyes.arizona.edu]

Page 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‎ [books.google.com]

Page 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‎ [books.google.com]