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RERE-related neurodevelopmental syndrome
ORPHA:494344 · Malformation syndrome · Disorder
HPO 表現型（共 52 項）
Frequent (79-30%)(9)
- Abnormal heart morphologyHP:0001627
- Abnormality of the eyeHP:0000478
- Brain imaging abnormalityHP:0410263
- Feeding difficultiesHP:0011968
- Global developmental delayHP:0001263
- HypotoniaHP:0001252
- Intellectual disabilityHP:0001249
- Intrauterine growth retardationHP:0001511
- Postnatal growth retardationHP:0008897
Occasional (29-5%)(43)
- Abnormal cranial nerve physiologyHP:0031910
- Abnormal facial shapeHP:0001999
- Abnormality of the genitourinary systemHP:0000119
- AnisometropiaHP:0012803
- Anteverted naresHP:0000463
- AstigmatismHP:0000483
- Attention deficit hyperactivity disorderHP:0007018
- Atypical behaviorHP:0000708
- Autistic behaviorHP:0000729
- BlepharophimosisHP:0000581
- Broad eyebrowHP:0011229
- Cerebellar vermis hypoplasiaHP:0001320
- Cerebral visual impairmentHP:0100704
- Choanal atresiaHP:0000453
- Chorioretinal colobomaHP:0000567
- CNS demyelinationHP:0007305
- CryptorchidismHP:0000028
- DysphagiaHP:0002015
- EpicanthusHP:0000286
- EsotropiaHP:0000565
- ExotropiaHP:0000577
- Frontal bossingHP:0002007
- Gastroesophageal refluxHP:0002020
- Hearing impairmentHP:0000365
- Hip dysplasiaHP:0001385
- Hypoplasia of the corpus callosumHP:0002079
- HypospadiasHP:0000047
- Iris colobomaHP:0000612
- MicrognathiaHP:0000347
- MicrophthalmiaHP:0000568
- MyopiaHP:0000545
- Optic atrophyHP:0000648
- Peters anomalyHP:0000659
- Poor suckHP:0002033
- Posteriorly rotated earsHP:0000358
- PtosisHP:0000508
- ScoliosisHP:0002650
- SeizureHP:0001250
- Self-injurious behaviorHP:0100716
- StrabismusHP:0000486
- Ventricular septal defectHP:0001629
- VentriculomegalyHP:0002119
- Vesicoureteral refluxHP:0000076