Nicolaides-Baraitser syndrome | About the Disease | GARD
Nicolaides-Baraitser syndrome (NCBRS) is a very rare condition characterized by severe intellectual disability and various physical features. Signs and symptoms may include seizures, short stature, sparse hair, distinctive facial characteristics, short fingers and toes (brachydactyly), and prominent joints in the fingers and toes ...
Nicolaides-Baraitser syndrome - MedlinePlus
Nicolaides-Baraitser syndrome is a condition that affects many body systems. Explore symptoms, inheritance, genetics of this condition.
Nicolaides–Baraitser syndrome - Wikipedia
Nicolaides–Baraitser syndrome (NCBRS) is a rare genetic condition caused by de novo missense mutations in the SMARCA2 gene and has only been reported in fewer than 200 cases worldwide. [2] NCBRS is a distinct condition and well recognizable once the symptoms have been identified.
Nicolaides-Baraitser Syndrome - GeneReviews® - NCBI Bookshelf
2015年10月15日 · Nicolaides-Baraitser syndrome (NCBRS) is characterized by sparse scalp hair, prominence of the inter-phalangeal joints and distal phalanges due to decreased subcutaneous fat, characteristic coarse facial features, microcephaly, seizures, and developmental delay / intellectual disability.
Nicolaides-Baraitser syndrome follows an autosomal dominant pattern of inheritance, Reprinted from MedlinePlus Genetics (https://medlineplus.gov/genetics/) 3 which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Orphanet: Nicolaides-Baraitser syndrome
A rare, genetic, syndromic intellectual disability characterized by short stature, sparse hair, characteristic coarse face, brachydactyly with prominent interphalangeal joints, seizures and intellectual disability.
Entry - #601358 - NICOLAIDES-BARAITSER SYNDROME; NCBRS
2016年5月4日 · Nicolaides-Baraitser syndrome (NCBRS) is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair (summary by Sousa et al., 2009).
Nicolaides-Baraitser syndrome (Concept Id: C1303073)
Nicolaides-Baraitser syndrome (NCBRS) is characterized by sparse scalp hair, prominence of the inter-phalangeal joints and distal phalanges due to decreased subcutaneous fat, characteristic coarse facial features, microcephaly, seizures, and developmental delay / intellectual disability.
Nicolaides-Baraitser syndrome - NIH Genetic Testing Registry …
Nicolaides-Baraitser syndrome (NCBRS) is characterized by sparse scalp hair, prominence of the inter-phalangeal joints and distal phalanges due to decreased subcutaneous fat, characteristic coarse facial features, microcephaly, seizures, and developmental delay / intellectual disability.
Nicolaides-baraitser syndrome - ThinkGenetic Foundation
Nicolaides-Baraitser syndrome (NCBRS) is a genetic condition that affects many body systems. The most common symptoms are sparse hair, small head size (microcephaly), distinct facial features, short stature, prominent finger joints, unusually short fingers and toes (brachydactyly), seizures, and mild to severe intellectual disability with poor ...