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Orofaciodigital syndrome type 6

ORPHA:2754 · Clinical subtype · Subtype of disorder

HPO 表現型（共 52 項）

Frequent (79-30%)(34)

  • Abnormal oral frenulum morphologyHP:0000190
  • AtaxiaHP:0001251
  • Bilateral cryptorchidismHP:0008689
  • Biparietal narrowingHP:0004422
  • BrachydactylyHP:0001156
  • Broad nasal tipHP:0000455
  • Cleft palateHP:0000175
  • Conductive hearing impairmentHP:0000405
  • EpicanthusHP:0000286
  • EsotropiaHP:0000565
  • Failure to thriveHP:0001508
  • Feeding difficulties in infancyHP:0008872
  • Finger clinodactylyHP:0040019
  • Frontal bossingHP:0002007
  • Gait disturbanceHP:0001288
  • Generalized hypotoniaHP:0001290
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Hamartoma of tongueHP:0011802
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • Hypoplasia of olfactory tractHP:0007036
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Lobulated tongueHP:0000180
  • Long faceHP:0000276
  • MicrognathiaHP:0000347
  • Molar tooth sign on MRIHP:0002419
  • NystagmusHP:0000639
  • Posteriorly rotated earsHP:0000358
  • Preaxial polydactylyHP:0100258
  • Short statureHP:0004322
  • SyndactylyHP:0001159
  • Tongue nodulesHP:0000199

Occasional (29-5%)(18)

  • Abnormal heart morphologyHP:0001627
  • Abnormality of neuronal migrationHP:0002269
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • ApneaHP:0002104
  • Central Y-shaped metacarpalHP:0006145
  • Cerebellar vermis hypoplasiaHP:0001320
  • Episodic tachypneaHP:0002876
  • Foot polydactylyHP:0001829
  • Hand polydactylyHP:0001161
  • Highly arched eyebrowHP:0002553
  • Hypothalamic hamartomaHP:0002444
  • Mesoaxial polydactylyHP:0100260
  • Midline notch of upper alveolar ridgeHP:0009084
  • Prominent nasal bridgeHP:0000426
  • Renal agenesisHP:0000104
  • Renal hypoplasia/aplasiaHP:0008678
  • SeizureHP:0001250
  • TremorHP:0001337