Fig. 4: Phenotypes. | European Journal of Human Genetics

Fig. 4: Phenotypes.

From: Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain

Fig. 4: Phenotypes.

A Schematic indicating the proposed phenotypic continuum in PNKP-related disease: MCSZ (microcephaly, seizure, and developmental delay; MIM# 613402) and developmental and epileptic encephalopathy (DEE10; MIM# 613402), AOA4 (ataxia-oculomotor apraxia type 4; MIM# 616267), and Charcot–Marie–Tooth disease, type 2B2 (CMT2B2; MIM# 605589). Prenatal manifestation is added as prenatal microcephaly (PMC). Interpreted severity of the disease is shown by color course. B Comparison of the main clinical aspects between prenatal period (left), childhood (middle), and adulthood (right). Aplasia/hypoplasia of the cerebrum (HP:0007364) and the cerebellum (HP:0007360) is exclusively described in the prenatal period. Microcephaly (HP:0000252) is one of the main features of the prenatal and childhood phenotype MCSZ. MCSZ and DEE10 also comprise developmental delay/intellectual disability (HP:0001263; HP:0001249), seizures (HP:0001250), and muscular hypotonia (HP:0001252). Ataxia (HP:0001251) and oculomotor apraxia (HP:0000657) are characteristic for AOA4. Distinct biochemical features (elevated alpha-fetoprotein HP:0006254, hypoalbuminemia HP:0003073, hypercholesterolemia HP:0003124) were mostly described in cases with AOA4. Overlap between childhood and adulthood presentation are cerebellar atrophy (HP:0001272) and polyneuropathy (HP:0000763).

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