| Name | MIM | Chr | Phenotype | Clinical synopsis |
---|---|---|---|---|---|
LAMB3 | laminin subunit beta 3 | 150310 | 1q32.2 | mutation: Junctional Epidermolysis Bullosa, Herlitz Type and Non-Herlitz Type; Amelogenesis imperfecta, type IA | Junctional Epidermolysis – autosomal recessive skin disorder in which blisters occur at the level of the lamina lucida in the skin basement membrane, Herlitz type is more severe than Non-Herlitz type and often results in early death; Amelogenesis imperfecta IA is characterized by enamel that may not develop to normal thickness |
G0S2 | G0/G1 switch 2 | 614447 | 1q32.2 | ?Van der Woude syndrome (VWS) | VWS is dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP) |
IRF6 | interferon regulatory factor 6 | 607199 | 1q32.2 | mutation: Van der Woude syndrome; Popliteal pterygium syndrome 1 (PPS); Orofacial cleft 6 | VWS is dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP); PPS has a highly variable clinical presentation including orofacial, cutaneous, musculoskeletal, and genital anomalies; Orofacial cleft 6 is nonsyndromic cleft lip with or without cleft palate |
RD3 | retinal degeneration 3 | 180040 | 1q32.2 | mutation: Leber congenital amaurosis 12 | early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction |
NEK2 | NIMA-related kinase 2 | 604043 | 1q32.2 | ?retinitis pigmentosa 67; ?Van der Woude syndrome | hereditary retinal conditions in which degeneration of rod photoreceptors is more pronounced than that of cone photoreceptors |
KCNH1a | potassium channel, voltage gated eag related subfamily H, member 1 | 603305 | 1q32.2 | Zimmermann-Laband syndrome 1 Temple-Baraitser syndrome | Zimmermann-Laband - rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, abnormalities of the cartilage of the nose and/or ears and developmental delay Temple-Baraitser syndrome - rare developmental disorder, severe mental retardation and anomalies of the first ray of the upper and lower limbs with absence/hypoplasia of the nails. |