From the two genes with potentially disease-associated bi-allelic variants (MTHFD1L, PTK7) we selected compound heterozygous missense variants in PTK7 (c.[19G>A];[c.1238 A>G], p.(G7R);(N413S)) as the best candidates since two PTK7 loss of function mouse models show severe neural tube defects, cystic kidneys, micrognathia, and unilateral anophthalmia [25, 26]. The gene discussed is MTHFD1L; the disease is Micrognathia.