Disease #04112

Official abbreviation CSS9;MRD27
Name syndrome, Coffin-Siris, type 9 (CSS9, mental retardation, autosomal dominant, type 27 (MRD27))
OMIM ID 615866
Human Phenotype Ontology Project (HPO) HPO
Inheritance AD
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene SOX11
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00081322 Pat8 PubMed: Hempel 2016 - F no United Kingdom (Great Britain) white - 0 - - CSS, CSS9;MRD27 intellectual disability, microcephaly, absence seizures; height 89.4 cm (0.4th), weight 12.15 kg (0.4th), OFC 46.5 cm (0.4th); 30m-walk, no speech, poor feeding as neonate, autism, 5th finger clinodactyly, hypoplasia nail 5th toe, oculomotor apraxia OXA1L SOX11 1 1 Alisdair McNeill
00081323 Pat9 PubMed: Hempel 2016 - M - United Kingdom (Great Britain) white - 0 - - CSS, CSS9;MRD27 microcephaly, developmental delay; height 109.4 cm (9th), weight 18.45 kg (9th), OFC 48.2 cm (0.4th); 30m-walk; 36m-speech; poor feeding as neonate, 5th finger clinodactyly, 2–3 toe syndactyly, hypoplasia nail 5th toe, hypermetropia - SOX11 1 1 Alisdair McNeill
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