Rubinstein-Taybi syndrome
A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics.
MONDO:0000426
autosomal dominant disease
excluded_subClassOf
MONDO:0005328
eye disorder
excluded_subClassOf
MONDO:0016565
obsolete syndromic genetic obesity (obsolete MONDO:0016565)
excluded_subClassOf
MONDO:0016756
obsolete inherited nervous system cancer-predisposing syndrome (obsolete MONDO:0016756)
excluded_subClassOf
MONDO:0020237
obsolete lens shape anomaly (obsolete MONDO:0020237)
excluded_subClassOf
MONDO:0000508
syndromic intellectual disability
is_a
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0018234
dysostosis
is_a
MONDO:0019054
congenital limb malformation
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
Broad thumb-hallux syndrome
exact
Broad thumbs-halluces syndrome
exact
RSTS
related
Rubinstein-Taybi Syndrome
exact