300422 Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 Mental retardation, with or without nystagmus 300422 Non-Hodgkin lymphoma, somatic 605027 CBS 21q22.3 Homocystinuria, B6-responsive and nonresponsive types 236200 Thrombosis [institutobernabeu.com]

614321 (3) CAV3 601253 Rippling muscle disease, 606072 (3) CBL 165360 Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia, 613563 (3) CBS 613381 Homocystinuria, B6-responsive and nonresponsive types, 236200 (3) CBS 613381 Thrombosis [usegalaxy.org]

3,615402 CDAN1 Dyserythropoietic anemia, congenital, type Ia,224120 C15orf41 Dyserythropoietic anemia, congenital, type Ib, 615631 (3) FGA Dysfibrinogenemia, alpha type, causing bleeding diathesis FGA Dysfibrinogenemia, alpha type, causing recurrent thrombosis [gsdseq.ir]

PROC) Thrombophilia due to protein C deficiency, autosomal recessive ( PROC) Thrombophilia due to protein S deficiency ( PROS1) Thrombophilia, familial, due to decreased release of PLAT ( PLAT) Thrombophilia, X-linked, due to factor IX defect ( F9) Thrombosis [en.praenatal-medizin.de]

UniProtKB/Swiss-Prot : 75 Amelogenesis imperfecta 1G: A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. [malacards.org]

Definition A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. [uniprot.org]

discoloration of the teeth Delayed eruption of permanent teeth Anterior open bite Enuresis nocturna Abnormality of dental color Abnormality of calcium-phosphate metabolism Impaired renal concentrating ability Medullary nephrocalcinosis Nevus flammeus [mendelian.co]

This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. [ncbi.nlm.nih.gov]