microphthalmia with brain and digit anomalies
MeSH: C566440ORPHA: 139471
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with microphthalmia with brain and digit anomalies, sourced from HPO and Orphanet clinical annotations.
CryptorchidismHigh palateMicrocephalySensorineural hearing impairmentMicrocorneaCataractAnophthalmiaMyopiaRetinal dystrophyChorioretinal colobomaMicrophthalmiaIris colobomaNystagmusSclerocorneaAbnormality of the hypothalamus-pituitary axisSeizureGlobal developmental delayAgenesis of corpus callosumPostaxial foot polydactylyNail dysplasiaFinger syndactylyInferior cerebellar vermis hypoplasiaProximal placement of thumb
Classification & Codes
MeSH Code
C566440Orphanet Code
ORPHA:139471microphthalmia with brain and digit anomalies
| MeSH | C566440 |
| Orphanet | ORPHA:139471 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO