Disease association ontology term - MONDO:0010284 - Armfield syndrome

Term summary

ID

MONDO:0010284

Name

Armfield syndrome

Ontology or CV name

Disease association

Definition

X-linked intellectual disability, Armfield type is characterized by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.

Parents

• excluded_subClassOf multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• excluded_subClassOf X-linked syndromic intellectual disability
• is_a syndromic disease
• is_a hereditary disease

Annotation