Rare Disease Library

Intellectual disability-polydactyly-uncombable hair syndrome

Kozlowski-Krajewska syndrome

Alopecia-intellectual disability syndrome

Perniola-Krajewska-Carnevale syndrome

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type

Kozlowski-Tsuruta syndrome

Generalized eruptive keratoacanthoma

GEKA · Generalized eruptive keratoacanthomas of Grzybowski

Kozlowski-Brown-Hardwick syndrome

Lenz-Majewski hyperostotic dysplasia

Lenz-Majewski syndrome · Lenz-Majewski hyperostotic dwarfism

Orofaciodigital syndrome type 4

Baraitser-Burn syndrome · Mohr-Majewski syndrome

Short stature due to growth hormone qualitative anomaly

Kowarski syndrome