has material basis in germline mutation in NIN Seckel syndrome 7 https://www.malacards.org/card/seckel_syndrome_7 GARD:0017469 UMLS:C3553870 Orphanet:319675 DOID:0070011 OMIM:614851 MEDGEN:766784 Seckel syndrome caused by mutation in NIN ORDO calls this microcephalic primordial dwarfism, Dauber type NIN Seckel syndrome Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated. microcephalic primordial dwarfism, Dauber type Seckel syndrome 7 SCKL7 MONDO:0013922 Seckel syndrome type 7 Seckel syndrome