Disease: Syndactyly cataract mental retardation
- Associated congenital anomalies among cases with Down syndrome
- Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome
- Cataracts in the Smith-Lemli-Opitz syndrome
- Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome
- Lathosterolosis
- New syndromes of mental retardation
- Ocular findings in triploidy
- Oculofaciocardiodental syndrome caused by a novel BCOR variant
- Smith-Lemli-Opitz Syndrome
- Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality
- Syndactyly type 1 with cataracts and mental retardation