Also known as: Athyroidal hypothyroidism-spiky hair-cleft palate syndrome, Bamforth syndrome, Bamforth-Lazarus syndrome, hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate, hypothyroidism, ATHYROIDAL, with spiky hair and cleft palate, hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft palate, hypothyroidism-cleft palate syndrome
Also known as: band keratopathy, band-shaped keratopathy, corneal dystrophy, band-SHAPED
Also known as: BAP1 tumor predisposition syndrome, BAP1 tumour predisposition syndrome, BAP1-related tumor predisposition syndrome, TPDS, tumor predisposition syndrome, tumor susceptibility linked to germline BAP1 mutations, tumour predisposition syndrome, tumour susceptibility linked to germline BAP1 mutations
Also known as: BRWS, Baraitser-Winter syndrome, Fryns-Aftimos syndrome, cerebro-frontofacial syndrome, type 3, iris coloboma with ptosis hypertelorism and intellectual disability, iris coloboma with ptosis hypertelorism and mental retardation, trigonocephaly ptosis coloboma, trigonocephaly ptosis intellectual disability, trigonocephaly ptosis mental retardation
Also known as: ACTB Baraitser-Winter cerebrofrontofacial syndrome, ACTB-related BAFopathy, BRWS1, Baraitser-WINTER syndrome 1, Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB, Baraitser-Winter syndrome 1, Baraitser-Winter syndrome type 1, Fryns-Aftimos syndrome, cerebrofrontofacial syndrome, cerebrooculofacial lymphatic syndrome, chromosome 7P22 deletion syndrome, intellectual disability with epilepsy and characteristic facies, iris coloboma with ptosis, hypertelorism, and intellectual disability, iris coloboma with ptosis, hypertelorism, and mental retardation, mental retardation with epilepsy and characteristic facies, pachygyria, intellectual disability, epilepsy, and characteristic facies, pachygyria, mental retardation, epilepsy, and characteristic facies
Also known as: ACTG1 Baraitser-Winter cerebrofrontofacial syndrome, BRWS2, Baraitser-WINTER syndrome 2, Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1, Baraitser-Winter syndrome type 2, Baraitser-winter syndrome 2
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