hernias, craniosynostosis, pectus carinatum, abnormally shaped vertebrae, enamel hypoplasia with hypocalcification of the teeth, facial abnormalities, wide webbed neck, ambiguous genitalia, multiple nodular liver tumors, and mild psychomotor retardation [diseaseinfosearch.org]

hernia 【外反脛骨】*tibia valga[L] 【外反股】*coxa valga[L] *collum valgum[L] 【外反手】*talipomanus valga[L] 【外反踵足】*talipes calcaneovalgus[L] 【外反肘】*cubitus valgus[L] 【外反足】*pes valgus[L] *talipes valgus[L] 【外反母趾】*hallux valgus[L] 【外部骨腫】*osteoma externa[L] (咳) 【咳】*cough [medo.jp]

[…] epidemic diarrhea ( 伝染性下痢) 【流行性口内炎】*epidemic stomatitis 【流行性出血熱】*epidemic hemorrhagic fever (略 EHF) 【流行性耳下腺炎】*epidemic parotitis *parotitis epidemica[L] 【流行性脳炎】*epidemic encephalitis 【流行性脳脊髄膜炎】【流行性髄膜炎】*epidemic cerebrospinal meningitis 【流産】*abortion 【流涎】*sialorrhea [medo.jp]

[…] dominant inheritance ; Congenital onset ; Global developmental delay ; Hydrocephalus ; Macrocephaly ; Megalencephaly ; Polymicrogyria ; Postaxial hand polydactyly ; Prominent forehead ; Ventriculomegaly Associated Genes CCND2 Mouse Orthologs Ccnd2 (Withdrawn [mousephenotype.org]

If left untreated, blindness and continuing mental deterioration may occur. [14] [15] [16] Hydrocephalus may be subdivided according to the particular defect that exists in the brain and whether the cerebrospinal fluid pressure is high or normal: [14] [rarediseases.info.nih.gov]