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Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

ORPHA:397709 · Malformation syndrome · Disorder

HPO 表現型（共 54 項）

Very frequent (99-80%)(7)

  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Coarse facial featuresHP:0000280
  • Delayed fine motor developmentHP:0010862
  • Delayed gross motor developmentHP:0002194
  • Delayed speech and language developmentHP:0000750
  • Severe global developmental delayHP:0011344
  • Severe intellectual disabilityHP:0010864

Frequent (79-30%)(13)

  • Abnormal skeletal morphologyHP:0011842
  • Absent speechHP:0001344
  • AtaxiaHP:0001251
  • Autistic behaviorHP:0000729
  • Broad-based gaitHP:0002136
  • Frontal bossingHP:0002007
  • HypotoniaHP:0001252
  • KyphoscoliosisHP:0002751
  • MacroglossiaHP:0000158
  • NystagmusHP:0000639
  • Palpebral edemaHP:0100540
  • Relative macrocephalyHP:0004482
  • Sensorineural hearing impairmentHP:0000407

Occasional (29-5%)(34)

  • Abnormal cerebral white matter morphologyHP:0002500
  • ApraxiaHP:0002186
  • Atrial septal defectHP:0001631
  • Babinski signHP:0003487
  • BrachydactylyHP:0001156
  • Broad philtrumHP:0000289
  • CamptodactylyHP:0012385
  • ClinodactylyHP:0030084
  • Deep philtrumHP:0002002
  • Dental crowdingHP:0000678
  • Depressed nasal bridgeHP:0005280
  • Facial hypertrichosisHP:0002219
  • Full cheeksHP:0000293
  • HepatosplenomegalyHP:0001433
  • High palateHP:0000218
  • Hypoplasia of the ponsHP:0012110
  • HyporeflexiaHP:0001265
  • Long philtrumHP:0000343
  • Neuropathic spinal arthropathyHP:0008443
  • OligosacchariduriaHP:0010471
  • Patent ductus arteriosusHP:0001643
  • Pectus carinatumHP:0000768
  • Pointed chinHP:0000307
  • Retrocerebellar cystHP:0006951
  • SeizureHP:0001250
  • Short palpebral fissureHP:0012745
  • Small foreheadHP:0000350
  • SpasticityHP:0001257
  • Talipes equinovarusHP:0001762
  • TelecanthusHP:0000506
  • Thick vermilion borderHP:0012471
  • Thickened calvariaHP:0002684
  • Wide nasal baseHP:0012810
  • Wide nasal bridgeHP:0000431