hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
ORPHA: 293967
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 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismHypogonadotropic hypogonadismMicropenisBifid uvulaMicrocephalyHypertelorismMicrognathiaProtruding earConvex nasal ridgeMyopiaGlobal developmental delayGynecomastiaPrimary amenorrheaDelayed pubertyInsulin-resistant diabetes mellitusSprengel anomalyHirsutismVisual field defectSeizureMotor delayHypertoniaSpecific learning disabilityShort statureOligohydramniosPes cavusOverlapping toeMicrocytic anemiaLower limb spasticityHighly arched eyebrowDelayed skeletal maturationGenu valgumBroad halluxCongenital sensorineural hearing impairmentContracture of the proximal interphalangeal joint of the 5th fingerMarked delay in bone ageHypoplasia of the tooth germCerebral dysmyelinationEarly-onset non-progressive night blindnessDecreased testicular sizeSevere postnatal growth retardationUnderdeveloped superior crus of antihelixBroad thumbModerate global developmental delayModerate intrauterine growth retardationFeeding difficultiesAbnormal optic disc morphologyDecreased corneal thickness
Classification & Codes
Orphanet Code
ORPHA:293967hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
| Orphanet | ORPHA:293967 |
| Treatments | 0 drug(s) |
| Symptoms on record | 47 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO