has material basis in germline mutation in SMAD4 congenital nervous system disorder Myhre syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 https://rarediseases.info.nih.gov/diseases/2572/myhre-syndrome https://www.malacards.org/card/myhre_syndrome UMLS:C0796081 Orphanet:2588 MESH:C537620 NCIT:C123815 LAPS syndrome SCTID:699316006 NORD:1481 GARD:0002572 Myhre syndrome OMIM:139210 Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients. MEDGEN:167103 ICD9:759.89 MONDO:0007688 facial dysmorphism-intellectual disability-short stature-hearing loss syndrome facial dysmorphism - intellectual deficit - short stature - hearing loss MYHRS Growth mental deficiency syndrome of Myhre multiple congenital anomalies/dysmorphic syndrome-intellectual disability acromelic dysplasia autosomal dominant syndromic intellectual disability