orofaciodigital syndrome type 6
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0013824
Joubert syndrome 17
is_a
MONDO:0015375
orofaciodigital syndrome
is_a
MONDO:0020022
central nervous system malformation
is_a
MONDO:0100545
hereditary neurological disease
is_a
Joubert syndrome with oral-facial-digital syndrome
exact
Joubert syndrome with orofaciodigital defect
exact
OFD6
exact
Varadi syndrome
exact
Varadi-Papp syndrome
exact
Váradi syndrome
related
Váradi-Papp syndrome
related
oral-facial-digital syndrome type 6
exact
orofaciodigital syndrome VI
exact
orofaciodigital syndrome type 6
exact
polydactyly - cleft lip/palate - psychomotor retardation
related
polydactyly cleft lip palate psychomotor retardation
related
polydactyly-cleft lip/palate-psychomotor retardation syndrome
exact