Renpenning's syndrome is a neurodevelopmental disorder recognised in males that causes intellectual disability, mild growth retardation with examples...

Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with...

delay-hypotonia syndrome Renpenning syndrome Seckel syndrome 9 Severe X-linked myotubular myopathy SIN3A-related intellectual disability syndrome due to a point...

Potocki-Shaffer syndrome RAB23-related Carpenter syndrome Radial aplasia-thrombocytopenia syndrome Renpenning syndrome Ritscher-Schinzel syndrome Saethre-Chotzen...

deletion syndrome 22q11.2 duplication syndrome 22q13 deletion syndrome 2p15-16.1 microdeletion syndrome 2q37 deletion syndrome 3-M syndrome 3C syndrome 3q29...

Prolidase deficiency Pyknodysostosis RAB23-related Carpenter syndrome Renpenning syndrome Restrictive dermopathy 1 RFT1-congenital disorder of glycosylation...

in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly"...

Syndromic microphthalmia is a class of rare congenital anomalies characterized by microphthalmia along with other non-ocular malformations. Syndromic...

dysgenesis; 267430; REN Renal-hepatic-pancreatic dysplasia; 208540; NPHP3 Renpenning syndrome; 309500; PQBP1 Restrictive dermopathy, lethal; 275210; ZMPSTE24 Reticular...