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Table 2 Clinical features of the present subject compared with the clinical features individually reported for mutations in KIF7 and KIAA0556

From: Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

Clinical featuresHPOKIF7KIAA0556
Growth delayHP:0001510
  Wide anterior fontanelHP:0000260NR
  Prominent occiputHP:0000269NR
  Frontal bossingHP:0002007
  Prominent foreheadHP:0011220NR
  Short philtrumHP:0000322o
  Midface retrusionHP:0011800o
  Malformed earsHP:0000377o
  Preauricular skin tagHP:0000384NR
  Posteriorly rotated earsHP:0000358o
  Low-set, posteriorly rotated earsHP:0000368o
  Thick eyebrowHP:0000574oo
  Epicanthal foldsHP:0000286NR
  Downslanting palpebral fissuresHP:0000494o
  Optic atrophyHP:0000648o
  Retinal dystrophyHP:0000556NR
  Oculomotor apraxiaHP:0000657NR
  Hypoplastic noseHP:0003196
  Anteverted naresHP:0000463
  Short columellaHP:0002000oo
  Cleft lip and palateHP:0008501
 Septal defectsHP:0001671NR
 Pulmonary valve defectsHP:0005148NR
 Abnormality of the kidneyHP:0000077NRNR
 Abnormality of the liverHP:0001392NRNR
 Imperforate anusHP:0002023NR
 Umbilical herniaHP:0001537NR
 Inguinal herniaHP:0000023
 Abnormality of the handHP:0001155NR
 Abnormality of the footHP:0001760NR
 Global developmental delayHP:0001263
 Intellectual disabilityHP:0001249
 Cerebellar AtaxiaHP:0001251NR
 MRI abnormalities
  Molar tooth signHP:0002419
  Hypoplastic or absent corpus callosumHP:0007370
  Ectopic posterior pituitaryHP:0011747o
  Enlarged ventriclesHP:0002119o
  Cerebellar hypoplasiaHP:0001321NR
  Optic nerve hypoplasiaHP:0000609o
Endocrine features
 Growth hormone deficiencyHP:0000824o
 Recurrent infectionsHP:0002719NR
(References) [14, 17,18,19,20][15, 16, 21, 22]
  1. (■), feature previously reported and present in the proband; (□), feature previously reported but absent in the proband; (o), feature not previously reported but present in the proband; (NR), feature not previously reported and absent in the proband