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Autism spectrum disorder due to AUTS2 deficiency
ORPHA:352490 · Disease · Disorder
HPO 表現型（共 55 項）
Very frequent (99-80%)(3)
- Abnormal facial shapeHP:0001999
- Delayed speech and language developmentHP:0000750
- Intellectual disabilityHP:0001249
Frequent (79-30%)(24)
- Auditory sensitivityHP:0025112
- Autistic behaviorHP:0000729
- Bilateral ptosisHP:0001488
- Compulsive behaviorsHP:0000722
- EpicanthusHP:0000286
- Feeding difficulties in infancyHP:0008872
- Generalized hypotoniaHP:0001290
- Global developmental delayHP:0001263
- Highly arched eyebrowHP:0002553
- HypertelorismHP:0000316
- Low-set earsHP:0000369
- MicrocephalyHP:0000252
- MicrognathiaHP:0000347
- Motor stereotypyHP:0000733
- Narrow mouthHP:0000160
- ProptosisHP:0000520
- Repetitive compulsive behaviorHP:0008762
- Short palpebral fissureHP:0012745
- Short philtrumHP:0000322
- Short statureHP:0004322
- Small for gestational ageHP:0001518
- Specific learning disabilityHP:0001328
- StrabismusHP:0000486
- Wide nasal bridgeHP:0000431
Occasional (29-5%)(28)
- Abnormal brain morphologyHP:0012443
- Abnormal foot morphologyHP:0001760
- Abnormal heart morphologyHP:0001627
- Anteverted naresHP:0000463
- Arthrogryposis multiplex congenitaHP:0002804
- Atrial septal defectHP:0001631
- Attention deficit hyperactivity disorderHP:0007018
- Cerebral palsyHP:0100021
- Congenital contractureHP:0002803
- CryptorchidismHP:0000028
- Decreased palmar creasesHP:0006184
- Eczematoid dermatitisHP:0000964
- HyperactivityHP:0000752
- HyperreflexiaHP:0001347
- HypertoniaHP:0001276
- Inguinal herniaHP:0000023
- Joint contracture of the 5th fingerHP:0009183
- Joint contracture of the handHP:0009473
- KyphosisHP:0002808
- Narrow palmHP:0004283
- Periauricular skin pitsHP:0100277
- Prominent nasal tipHP:0005274
- RetrognathiaHP:0000278
- ScoliosisHP:0002650
- SeizureHP:0001250
- SpasticityHP:0001257
- Umbilical herniaHP:0001537
- Upslanted palpebral fissureHP:0000582