mandibulofacial dysostosis-microcephaly syndrome
Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0018237
acrofacial dysostosis
is_a
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
related
Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate
related
Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome
related
MFDGA
related
MFDM
related
MFDM syndrome
exact
mandibulofacial dysostosis with microcephaly
exact
mandibulofacial dysostosis, Guion-Almeida type
exact
mandibulofacial dysostosis-microcephaly syndrome
exact
SPBC215.12