P2293
Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndromeA locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14.Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndromeSpondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar).Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies.Urolithiasis in a child with Spondylocarpotarsal Synostosis Syndrome: A Co-Incidence.Fetal alcohol syndrome: a phenocopy of spondylocarpotarsal synostosis syndrome?Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.Spondylocarpotarsal synostosis syndrome. A rare case of short stature and congenital scoliosis.Spondylocarpotarsal synostosis syndrome and cervical instability.Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation.Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invaginationSpondylocarpotarsal synostosis syndrome: "Bat wings" spinal fusions and "ladybug" carpal coalitionsRecessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneityExpanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous fatherSpondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar)[Spondylocarpotarsal synostosis syndrome]
P921
Q35110753-1C882600-0845-4C81-B671-B1755A25F4E4Q35445351-C037321E-8BFA-4A4D-BF89-92D161888CE3Q37186989-A9994A75-7106-4A79-AEEC-CB7C5C62ECF8Q40671100-93176B85-4A60-4C32-B22D-8E833E277925Q41747935-00274FCB-E07D-4870-95C5-F12F9259830EQ42932616-C2944828-6005-4939-8346-EA64C50153A8Q42934603-6B31C12B-67CF-4D37-BEA9-02A17F40BEE7Q45100979-66938463-0728-4C92-A10A-01237DC927E7Q47133669-63798308-7632-481C-BBFB-71A3AEF2B6D6Q50496751-25DDF5F0-8E99-42CE-B33B-0E1F9AFDB17CQ51158820-3EFA17EC-5812-4B10-B113-74C549B7B6FAQ52015682-D3B67885-7D0A-419F-BB9C-505621ABD01CQ52642609-5945CCBA-1FB0-4983-9A18-BA52D5F1F2ACQ57920893-8DA95417-379F-4A86-9D07-341594AAF6F7Q57920906-9183C709-AF6A-49C6-A277-12C578632F5FQ57920957-BE4F5F94-8B44-4208-A53E-80E08BFDC291Q57922902-3854D4F2-5304-443F-9E6B-76ECE530F311Q57922941-24D76AE8-DCE1-4A25-AF37-6D000BFCAFAAQ57923693-FF87A3CD-F31C-4AA9-9BE2-5C5229269F35Q57924715-5839E45D-BF1F-4D44-81CD-B0A7D1E405C2
P921
description
human disease
@en
name
Spondylo-karpo-tarsale Synostose
@de
spondylocarpotarsal synostosis syndrome
@en
synostose spondylo-carpo-tarsienne
@fr
type
label
Spondylo-karpo-tarsale Synostose
@de
spondylocarpotarsal synostosis syndrome
@en
synostose spondylo-carpo-tarsienne
@fr
altLabel
SCT
@en
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
@en
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; SCT
@en
Scoliosis, Congenital, With Unilateral Unsegmented Bar
@en
Scoliosis, congenital with unilateral unsegmented bar
@en
Synspondylism congenital
@en
Synspondylism
@en
Synspondylism, Congenital
@en
congenital scoliosis with unilateral unsegmented bar
@en
congenital synspondylism
@en
prefLabel
Spondylo-karpo-tarsale Synostose
@de
spondylocarpotarsal synostosis syndrome
@en
synostose spondylo-carpo-tarsienne
@fr
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MONDO:0010094
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DOID:0090116