has material basis in germline mutation in ZBTB20 syndromic intellectual disability syndromic disease hereditary disease Primrose syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6101 https://www.malacards.org/card/primrose_syndrome OMIM:259050 PRIMS Primrose syndrome GARD:0004488 MONDO:0009798 SCTID:726709001 Orphanet:3042 MEDGEN:162911 intellectual disability-cataracts-calcified pinnae-myopathy syndrome A rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. UMLS:C0796121 MESH:C536420