Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Also known as: Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15
Also known as: Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15
Also known as: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11, Mosaic paternal uniparental disomy of chromosome 11, UPD(11)pat
Also known as: Beemer Langer syndrome, Beemer-Langer syndrome, SRPS type 4, SRTD12, Srps 4, short rib polydactyly syndrome Beemer-Langer type, short rib syndrome, Beemer type, short rib-polydactyly syndrome Beemer type, short rib-polydactyly syndrome type 4, short rib-polydactyly syndrome type IV, short rib-polydactyly syndrome, Beemer-Langer type, short rib-polydactyly syndrome, type 4, short-rib thoracic dysplasia 12, type IV short rib polydactyly syndrome
Also known as: bv-FTD
Also known as: BEHRS, Behr syndrome, optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss, optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss, optic atrophy, infantile hereditary, Behr complicated form of, optic atrophy, infantile hereditary, with neurologic abnormalities
Also known as: Bencze syndrome, hemifacial hyperplasia strabismus, hemifacial hyperplasia with strabismus, hemifacial hyperplasia-strabismus syndrome
Also known as: adrenal gland pheochromocytoma, benign, benign adrenal gland pheochromocytoma, pheochromocytoma, benign
Also known as: ADCME, BAFME, FAME, FCMTE, autosomal dominant cortical myoclonus and epilepsy, benign adult familial myoclonus epilepsy, familial adult myoclonic epilepsy, familial cortical myoclonic tremor and epilepsy
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