[pubmed:23636107] clinical features ...linical-features] {1:Kvarnung et al. (2013)} reported a consanguineous family of Turkish origin in which 4 patients had severe intellectual and motor disability and multiple congenital anomalies. [bio2rdf.org]

The patient presented with severe hypotonia, microphallus and left cryptorchidism, and was later diagnosed with epilepsy and severe cortical visual impairment. [ncbi.nlm.nih.gov]

impairment Skin abnormalities (ichthyosis, etc.) [igd.biken.osaka-u.ac.jp]

impairment Status epilepticus Nephrocalcinosis Calcinosis Deep philtrum And 56 more phenotypes. [mendelian.co]

forehead Open mouth Cortical visual impairment Status epilepticus Nephrocalcinosis Calcinosis Deep philtrum And 56 more phenotypes. [mendelian.co]

The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple, low-set, prominent ears; and puffy eyelids. [nature.com]

All patients also had some type of skeletal findings, including scoliosis, pectus excavatum, short upper extremities, slender and osteopenic long bones with large secondary ossification centers, wide and long femoral necks, and delayed bone age. [bio2rdf.org]

bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia [mendelian.co]