stature Decreased body height Small stature [ more ] 0004322 Type 1 and type 2 muscle fiber minicore regions 0003787 Showing of 42 Last updated: 6/1/2019 The resources below provide information about treatment options for this condition. [rarediseases.info.nih.gov]

BARTTER SYNDROME, TYPE 3; BARTS3 Is also known as bartter syndrome, classic;adult bartter syndrome; bartter syndrome type 3; bartter syndrome type iii Related symptoms: Autosomal recessive inheritance Intellectual disability Short stature Growth delay [mendelian.co]

stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 12 skeletal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003202 13 elbow flexion contracture 60 33 frequent (33%) Frequent (79-30%) HP:0002987 14 multiple joint contractures 60 33 [malacards.org]

Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa and hypogonadotrophic hypogonadism. Am J Med Genet. 1985;20:145–158. doi: 10.1002/ajmg.1320200118. [ncbi.nlm.nih.gov]

 Other clinical features can include facial, bulbar, and respiratory weakness; short stature; low body weight  Multiple joint contractures; scoliosis; long, thin face; and high- arched palate. 41. HISTOPATHOLOGY: 42. [slideshare.net]

He had also developed a chronic cough, and pulmonary function tests showed evidence of restrictive airway disease. Muscle biopsy results were compatible with that of multiminocore disease. [cags.org.ae]

The onset was within the first two years of life with muscle hypotonia. The gross motor development, al- though with delay, was achieved in most of the patients, who maintain the deambulation for a long period. [cyberleninka.org]

[…] body height Small stature [ more ] 0004322 Type 1 and type 2 muscle fiber minicore regions 0003787 Showing of 42 Last updated: 6/1/2019 The resources below provide information about treatment options for this condition. [rarediseases.info.nih.gov]

stiffness, an inability for the patient to bend their neck and imaging evidence of the loss of muscle mass in the erector spinae muscles. 13 Primary RSS appears to have a genetic basis as mutations in the SEPN1 gene have been found to be associated with [ncbi.nlm.nih.gov]

The two children with secondary RSS had mild neck rigidity but demonstrated typical features of the underlying disease with positive Gowers’ signs. Both patients were female. [ncbi.nlm.nih.gov]

Decreased reflexes [ more ] 0001265 Pneumonia 0002090 Poor head control 0002421 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 5%-29% of people have these symptoms Global developmental delay 0001263 Gowers sign 0003391 Waddling [rarediseases.info.nih.gov]