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Myhre syndrome

MONDO:0007688

Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

Also known as: Myhre syndrome, facial dysmorphism-intellectual disability-short stature-hearing loss syndrome, Growth mental deficiency syndrome of Myhre, Growth-mental deficiency syndrome of Myhre, LAPS syndrome, MYHRE syndrome, MYHRS, facial dysmorphism - intellectual deficit - short stature - hearing loss

0 clinical trials for this condition and its sub-types, 0 tagged with Myhre syndrome itself.

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↑ Congenital nervous system disorder (287) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Autosomal dominant syndromic intellectual disability (15) ↑ Acromelic dysplasia (8)

Including sub-types (0) Tagged with Myhre syndrome (0)

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