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Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome

ORPHA:505237 · Malformation syndrome · Disorder

HPO 表現型（共 53 項）

Very frequent (99-80%)(2)

  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864

Frequent (79-30%)(37)

  • Absent speechHP:0001344
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • BrachycephalyHP:0000248
  • Broad thumbHP:0011304
  • Decreased body weightHP:0004325
  • Downslanted palpebral fissuresHP:0000494
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Flat occiputHP:0005469
  • Generalized hypotoniaHP:0001290
  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • High palateHP:0000218
  • Highly arched eyebrowHP:0002553
  • Hyperextensibility of the finger jointsHP:0001187
  • Inability to walkHP:0002540
  • Intrauterine growth retardationHP:0001511
  • Limb joint contractureHP:0003121
  • Long eyelashesHP:0000527
  • Long faceHP:0000276
  • Long palpebral fissureHP:0000637
  • Long philtrumHP:0000343
  • Low-set earsHP:0000369
  • MacrotiaHP:0000400
  • MicrocephalyHP:0000252
  • Overlapping toeHP:0001845
  • Prominent nasal bridgeHP:0000426
  • RetrognathiaHP:0000278
  • Sacral dimpleHP:0000960
  • ScoliosisHP:0002650
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Talipes equinovarusHP:0001762
  • Tapered fingerHP:0001182
  • Thin upper lip vermilionHP:0000219
  • VentriculomegalyHP:0002119
  • Wide noseHP:0000445

Occasional (29-5%)(13)

  • Aplasia/Hypoplasia of the external earHP:0008772
  • ArachnodactylyHP:0001166
  • AtaxiaHP:0001251
  • Atrial septal defectHP:0001631
  • Autistic behaviorHP:0000729
  • Cerebral cortical atrophyHP:0002120
  • Chronic constipationHP:0012450
  • CryptorchidismHP:0000028
  • HypertoniaHP:0001276
  • Spastic tetraplegiaHP:0002510
  • SpasticityHP:0001257
  • Toe syndactylyHP:0001770
  • Ventricular septal defectHP:0001629

Very rare (<4-1%)(1)

  • Cerebral palsyHP:0100021