has material basis in germline mutation in TBL1XR1 congenital nervous system disorder Pierpont syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/pierpont_syndrome MESH:C566559 DOID:0081362 Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear. OMIM:602342 plantar lipomatosis-facial dysmorphism-developmental delay syndrome PRPTS Pierpont syndrome MONDO:0011213 MEDGEN:356049 GARD:0017885 plantar lipomatosis-unusual facies-developmental delay syndrome Orphanet:487825 UMLS:C1865644 multiple congenital anomalies/dysmorphic syndrome-intellectual disability subcutaneous tissue disorder autosomal dominant syndromic intellectual disability