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Holoprosencephaly
ORPHA:2162 · Malformation syndrome · Disorder
HPO 表現型（共 93 項）
Very frequent (99-80%)(7)
- Abnormal facial shapeHP:0001999
- Abnormal nervous system morphologyHP:0012639
- Bilateral cleft lipHP:0100336
- HoloprosencephalyHP:0001360
- Median cleft palateHP:0009099
- Median cleft upper lipHP:0000161
- Solitary median maxillary central incisorHP:0006315
Frequent (79-30%)(22)
- AnophthalmiaHP:0000528
- AnosmiaHP:0000458
- Aplasia/Hypoplasia of the corpus callosumHP:0007370
- Choanal atresiaHP:0000453
- Cognitive impairmentHP:0100543
- CyclopiaHP:0009914
- Depressed nasal ridgeHP:0000457
- Diabetes mellitusHP:0000819
- DystoniaHP:0001332
- Gastroesophageal refluxHP:0002020
- Global developmental delayHP:0001263
- HypoglycemiaHP:0001943
- HyposmiaHP:0004409
- HypotelorismHP:0000601
- HypotoniaHP:0001252
- Iris colobomaHP:0000612
- MicrocephalyHP:0000252
- MicrophthalmiaHP:0000568
- Muscle weaknessHP:0001324
- SeizureHP:0001250
- SpasticityHP:0001257
- Tooth agenesisHP:0009804
Occasional (29-5%)(64)
- Abnormal antihelix morphologyHP:0009738
- Abnormal aortic morphologyHP:0001679
- Abnormal pinna morphologyHP:0000377
- Abnormal pulmonary valve morphologyHP:0001641
- Abnormal skull morphologyHP:0000929
- Abnormal vertebral body morphologyHP:0003312
- Abnormality of neuronal migrationHP:0002269
- Abnormality of the spleenHP:0001743
- Abnormality of the urinary systemHP:0000079
- Absent naresHP:0100596
- Anterior hypopituitarismHP:0000830
- Anteverted naresHP:0000463
- Aplasia/Hypoplasia involving the noseHP:0009924
- Aplasia/Hypoplasia of the cerebellumHP:0007360
- Aplasia/Hypoplasia of the lungsHP:0006703
- ArrhythmiaHP:0011675
- BlepharophimosisHP:0000581
- BrachydactylyHP:0001156
- Branchial anomalyHP:0009794
- Broad philtrumHP:0000289
- ChoreaHP:0002072
- Chorioretinal colobomaHP:0000567
- Congenital diaphragmatic herniaHP:0000776
- ConstipationHP:0002019
- CryptorchidismHP:0000028
- Dandy-Walker malformationHP:0001305
- Deep philtrumHP:0002002
- Deeply set eyeHP:0000490
- Depressed nasal tipHP:0000437
- Diabetes insipidusHP:0000873
- EncephaloceleHP:0002084
- EpicanthusHP:0000286
- Failure to thrive in infancyHP:0001531
- Feeding difficulties in infancyHP:0008872
- Flat occiputHP:0005469
- Frontal bossingHP:0002007
- Hand polydactylyHP:0001161
- Highly arched eyebrowHP:0002553
- HydrocephalusHP:0000238
- HypertelorismHP:0000316
- HyponatremiaHP:0002902
- Hypoplasia of penisHP:0008736
- Hypoplasia of the zygomatic boneHP:0010669
- Intestinal atresiaHP:0011100
- Joint hypermobilityHP:0001382
- MacrocephalyHP:0000256
- MacrotiaHP:0000400
- OmphaloceleHP:0001539
- Optic atrophyHP:0000648
- PanhypopituitarismHP:0000871
- ProteinuriaHP:0000093
- PtosisHP:0000508
- Respiratory insufficiencyHP:0002093
- RetinopathyHP:0000488
- ScoliosisHP:0002650
- Short neckHP:0000470
- Spinal cord tumorHP:0010302
- Spinal dysraphismHP:0010301
- SynophrysHP:0000664
- TalipesHP:0001883
- Tetralogy of FallotHP:0001636
- Thick eyebrowHP:0000574
- Upslanted palpebral fissureHP:0000582
- Ventricular septal defectHP:0001629