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Autosomal recessive cutis laxa type 2A
ORPHA:357058 · Disease · Disorder
HPO 表現型（共 53 項）
Very frequent (99-80%)(9)
- Abnormal cutaneous elastic fiber morphologyHP:0025082
- Abnormal isoelectric focusing of serum transferrinHP:0003160
- Excessive wrinkled skinHP:0007392
- Global developmental delayHP:0001263
- High myopiaHP:0011003
- Intellectual disabilityHP:0001249
- Joint hypermobilityHP:0001382
- Persistent open anterior fontanelleHP:0004474
- Progeroid facial appearanceHP:0005328
Frequent (79-30%)(23)
- Cerebellar malformationHP:0002438
- Delayed cranial suture closureHP:0000270
- Developmental regressionHP:0002376
- Dilated fourth ventricleHP:0002198
- Downslanted palpebral fissuresHP:0000494
- Enlarged posterior fossaHP:0005445
- Focal impaired awareness seizureHP:0002384
- Generalized-onset seizureHP:0002197
- HypotoniaHP:0001252
- Inguinal herniaHP:0000023
- Intrauterine growth retardationHP:0001511
- PachygyriaHP:0001302
- Pes planusHP:0001763
- Postnatal growth retardationHP:0008897
- Primary microcephalyHP:0011451
- Prominent nasal bridgeHP:0000426
- Prominent nasolabial foldHP:0005272
- Secondary microcephalyHP:0005484
- Severe global developmental delayHP:0011344
- StrabismusHP:0000486
- Thick cerebral cortexHP:0006891
- Thick hairHP:0100874
- Wide anterior fontanelHP:0000260
Occasional (29-5%)(16)
- Abnormal bleedingHP:0001892
- Abnormal cerebellar vermis morphologyHP:0002334
- AtaxiaHP:0001251
- AthetosisHP:0002305
- Blue scleraeHP:0000592
- Cerebellar vermis hypoplasiaHP:0001320
- Congenital hip dislocationHP:0001374
- Dandy-Walker malformationHP:0001305
- Dysplastic corpus callosumHP:0006989
- DystoniaHP:0001332
- Frontal bossingHP:0002007
- Inability to walkHP:0002540
- Long philtrumHP:0000343
- SeizureHP:0001250
- Slurred speechHP:0001350
- SpasticityHP:0001257
Very rare (<4-1%)(3)
- Abnormal cornea morphologyHP:0000481
- Hearing impairmentHP:0000365
- Increased susceptibility to fracturesHP:0002659
Excluded (0%)(2)
- Corneal opacityHP:0007957
- Hyperextensible skinHP:0000974