Neurodevelopmental Disorder with Relative Macrocephaly and with or without Cardiac or Endocrine Anomalies
Autoszomális domináns
Caused by a change in one copy of SPOP, which helps tag proteins for breakdown. The reported changes arise de novo and alter the protein's activity rather than simply removing it; this condition is one of two related SPOP syndromes, also called Nabais Sá-de Vries syndrome.
Tünetek és jelek
Developmental delay and intellectual disability with a head that is large relative to body size, often with distinctive facial features. Some have congenital heart differences. Less often there are hormone problems, such as reduced thyroid function, or other congenital differences.
Mit változtat a diagnózis
Developmental and educational support, with heart and endocrine assessment. Most cases arise de novo, so genetic counselling and parental testing guide recurrence risk.
Vizsgált gének
Más néven
nabais sa-de vries syndrome, type 2; NEDMACE
