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PDE4D haploinsufficiency syndrome
ORPHA:439822 · Malformation syndrome · Disorder
HPO 表現型（共 60 項）
Very frequent (99-80%)(15)
- BrachydactylyHP:0001156
- Broad footHP:0001769
- Broad halluxHP:0010055
- Broad metacarpalsHP:0001230
- Broad metatarsalHP:0001783
- Broad phalanxHP:0006009
- Depressed nasal bridgeHP:0005280
- Flat faceHP:0012368
- Intellectual disabilityHP:0001249
- Malar flatteningHP:0000272
- Short metacarpalHP:0010049
- Short metatarsalHP:0010743
- Short noseHP:0003196
- Short phalanx of fingerHP:0009803
- Short toeHP:0001831
Frequent (79-30%)(8)
- Accelerated skeletal maturationHP:0005616
- Coarse facial featuresHP:0000280
- Cone-shaped epiphysisHP:0010579
- Hypoplasia of the maxillaHP:0000327
- Intrauterine growth retardationHP:0001511
- Mandibular prognathiaHP:0000303
- Postnatal growth retardationHP:0008897
- Short philtrumHP:0000322
Occasional (29-5%)(37)
- Abnormal dental enamel morphologyHP:0000682
- Autistic behaviorHP:0000729
- Bilateral coxa valgaHP:0010665
- BrachycephalyHP:0000248
- Broad faceHP:0000283
- Caudal interpedicular narrowingHP:0008457
- CryptorchidismHP:0000028
- Elevated circulating parathyroid hormone levelHP:0003165
- EsotropiaHP:0000565
- Frontal bossingHP:0002007
- Hearing impairmentHP:0000365
- HypermetropiaHP:0000540
- HypertelorismHP:0000316
- HypospadiasHP:0000047
- HypotelorismHP:0000601
- HypotensionHP:0002615
- Increased intracranial pressureHP:0002516
- Irregular vertebral endplatesHP:0003301
- Joint hypermobilityHP:0001382
- Large foreheadHP:0002003
- Long palpebral fissureHP:0000637
- Long philtrumHP:0000343
- MicrognathiaHP:0000347
- Narrow palpebral fissureHP:0045025
- Neonatal hypotoniaHP:0001319
- ObesityHP:0001513
- Pes planusHP:0001763
- Posteriorly rotated earsHP:0000358
- Prominent nasal tipHP:0005274
- Prominent noseHP:0000448
- PtosisHP:0000508
- SeizureHP:0001250
- Short middle phalanx of fingerHP:0005819
- Thickened calvariaHP:0002684
- Thin upper lip vermilionHP:0000219
- Upper limb undergrowthHP:0009824
- Visual impairmentHP:0000505