has characteristic has characteristic has material basis in germline mutation in HNRNPK syndromic intellectual disability Au-Kline syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6335 https://rarediseases.info.nih.gov/diseases/4064/okamoto-syndrome https://www.malacards.org/card/au_kline_syndrome https://www.malacards.org/card/neurodevelopmental_disorder_craniofacial_dysmorphism_cardiac_defect_skeletal_anomalies_syndrome_due_to_a_point_mutation Okamoto syndrome MONDO:0014700 Orphanet:2729 MESH:C565736 OMIM:616580 AUKS hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation SCTID:722065002 congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and intellectual disability OMIM:604916 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation GARD:0004064 UMLS:C4225274 Orphanet:453504 Au-Kline syndrome congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation MEDGEN:900671 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome Mendelian neurodevelopmental disorder point_mutation