H00846
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Fuhrmann syndrome
Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
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Fuhrmann syndrome is a non-lethal limb malformation disorder with various degrees of limb aplasia/hypoplasia and joint dysplasia. Major manifestations include hypoplasia of the pelvis, aplasia or hypoplasia ...
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Congenital malformation
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WNT7A [HSA:7476] [KO:K00572]
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H00847
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Al-Awadi/Raas-Rothschild syndrome
Ulna and fibula, absence of, with sever limb deficiency
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... has overlapping phenotype with Fuhrmann syndrome, but more-severe limb truncation is observed. This is due to complete loss of WNT7A function in AARRS whereas impairment is partial in Fuhrmann syndrome.
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Congenital malformation
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WNT7A [HSA:7476] [KO:K00572]
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