← 返回搜尋
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
ORPHA:521445 · Malformation syndrome · Disorder
HPO 表現型（共 27 項）
Frequent (79-30%)(27)
- Abnormality of the kidneyHP:0000077
- Abnormality of the palmar creasesHP:0010490
- Bilateral sensorineural hearing impairmentHP:0008619
- BrachycephalyHP:0000248
- BuphthalmosHP:0000557
- Calcaneovalgus deformityHP:0001848
- Congenital hypothyroidismHP:0000851
- Delayed eruption of permanent teethHP:0000696
- Delayed myelinationHP:0012448
- Kidney stoneHP:0000787
- Long fingersHP:0100807
- MacrotiaHP:0000400
- Mandibular prognathiaHP:0000303
- MicrocephalyHP:0000252
- MigraineHP:0002076
- MyopiaHP:0000545
- Primary congenital glaucomaHP:0008007
- Prominent metopic ridgeHP:0005487
- Retinal detachmentHP:0000541
- Rieger anomalyHP:0000558
- Short philtrumHP:0000322
- Square faceHP:0000321
- Tapered fingerHP:0001182
- Tented upper lip vermilionHP:0010804
- Thyroid hypoplasiaHP:0005990
- Vertebrobasilar dolichoectasiaHP:0020038
- Wide nasal bridgeHP:0000431