Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia

Autosomal recessive

Infancy, Neonatal

Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

Autosomal recessive

Infancy, Neonatal

Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome

Unknown

Childhood

Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

No data available

Neonatal

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

Autosomal recessive

Infancy, Neonatal

Severe myopia-generalized joint laxity-short stature syndrome

Autosomal recessive

Neonatal

Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome

Autosomal recessive

Severe oculo-renal-cerebellar syndrome

Autosomal recessive

Infancy

Shashi-Pena syndrome

Autosomal dominant

Sheehan syndrome

Adult

Sheldon-Hall syndrome

Autosomal dominant, Not applicable

Neonatal

Shone complex

Adult, Childhood, Infancy, Neonatal

Short rib-polydactyly syndrome type 5

Autosomal recessive

Antenatal

Short rib-polydactyly syndrome, Beemer-Langer type

Autosomal recessive

Antenatal, Neonatal

Short rib-polydactyly syndrome, Majewski type

Autosomal recessive

Antenatal, Neonatal

Short rib-polydactyly syndrome, Saldino-Noonan type

Autosomal recessive

Neonatal

Short rib-polydactyly syndrome, Verma-Naumoff type

Autosomal recessive

Antenatal, Neonatal

Short stature, Brussels type

Unknown

Infancy, Neonatal

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

Autosomal recessive

Neonatal

Short stature-brachydactyly-obesity-global developmental delay syndrome

Autosomal recessive

Antenatal, Infancy, Neonatal

Short stature-craniofacial anomalies-genital hypoplasia syndrome

Infancy, Neonatal

Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

Antenatal, Neonatal

Short stature-optic atrophy-Pelger-Huët anomaly syndrome

Autosomal recessive

Infancy, Neonatal

Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome

Autosomal recessive

Childhood, Infancy, Neonatal