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302380
CATEL-MANZKE SYNDROME
#277610
WEISSENBACHER-ZWEYMULLER SYNDROME; WZS
261800 PIERRE ROBIN SYNDROME
172880 PIERRE ROBIN SYNDROME AND
OLIGODACTYLY
311900 PIERRE ROBIN SYNDROME WITH CONGENITAL
HEART MALFORMATION AND CLUBFOOT
#108300
STICKLER SYNDROME, TYPE I; STL1
254940 MYOPATHY, CONGENITAL NONPROGRESSIVE,
WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE
217980 CORPUS CALLOSUM, AGENESIS OF, WITH
FACIAL ANOMALIES AND ROBIN SEQUENCE
*143200
HYALOIDEORETINAL DEGENERATION OF WAGNER
#192430
VELOCARDIOFACIAL SYNDROME
208155 ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH
WHISTLING FACE
*602196
PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM
AND RIB AND SCAPULAR ANOMALIES
#154780
MARSHALL SYNDROME
117650 CEREBROCOSTOMANDIBULAR SYNDROME
#184840
STICKLER SYNDROME, TYPE II; STL2
*120290
COLLAGEN, TYPE XI, ALPHA-2; COL11A2
601186 ANOPHTHALMIA AND PULMONARY
HYPOPLASIA
*120140
COLLAGEN, TYPE II, ALPHA-1; COL2A1
*141900
HEMOGLOBIN--BETA LOCUS; HBB
*128600
EAR MALFORMATION
*166500
OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
225040 ECTODERMAL DYSPLASIA, HYPOHIDROTIC,
WITH HYPOTHYROIDISM AND AGENESIS OF THE CORPUS
CALLOSUM
*131240
ENDOTHELIN 1; EDN1
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