Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation associated with MAOA deficiency. [From OMIM]
Endocrine, nutritional and metabolic diseases
Metabolic disorders
Xp11.3
Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation associated with MAOA deficiency. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 300615.1 | Lebanon | Male | No |  | NM_000240.4:c.1078C>T | Hemizygous | X-linked, Recessive | Jalkh et al. 2019 |