SE-ATLAS

Short rib-polydactyly syndrome, Saldino-Noonan type Osteogenesis imperfecta Silver-Russell syndrome SHOX-related short stature Multiple epiphyseal dysplasia and pseudoachondroplasia Silver-Russell syndrome due to a point mutation Achondroplasia Noonan syndrome Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Bruck syndrome Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Multiple osteochondromas High bone mass osteogenesis imperfecta X-linked hypophosphatemia Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Pseudoachondroplasia Ehlers-Danlos/osteogenesis imperfecta syndrome Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to an imprinting defect of 11p15 Silver-Russell syndrome due to 11p15 microduplication Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Noonan syndrome and Noonan-related syndrome Kein Name gefunden Isolated growth hormone deficiency type IA Isolated growth hormone deficiency type IB Isolated growth hormone deficiency type III Pseudohypoparathyroidism Pseudohypoparathyroidism without Albright hereditary osteodystrophy Noonan syndrome-like disorder with juvenile myelomonocytic leukemia X-linked intellectual disability with isolated growth hormone deficiency Noonan syndrome with multiple lentigines Pseudohypoparathyroidism type 1A Pseudopseudohypoparathyroidism Pseudohypoparathyroidism type 1C Short stature due to growth hormone qualitative anomaly Non-acquired isolated growth hormone deficiency Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Neurofibromatosis-Noonan syndrome Noonan syndrome-like disorder with loose anagen hair Osteogenesis imperfecta type 1 Osteogenesis imperfecta type 2 Osteogenesis imperfecta type 3 Osteogenesis imperfecta type 4 Osteogenesis imperfecta type 5 Turner syndrome Pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 2 Dentinogenesis imperfecta Short-limb skeletal dysplasia with severe combined immunodeficiency Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome