Rare diseases · Sign or symptom
Abnormality of the voice
Voice abnormality
HP:0001608
Rare diseases that can present with this48
Very common80–99%
20- Atypical Werner syndrome
- Cole-Carpenter syndrome
- Congenital laryngomalacia
- Congenital velopharyngeal incompetence
- Edinburgh malformation syndrome
- Foix-Chavany-Marie syndrome
- Larynx atresia
- Locked-in syndrome
- Lujan-Fryns syndrome
- Maple syrup urine disease
- Moebius syndrome
- Monosomy 5p syndrome
- Mucopolysaccharidosis type 1
- Multifocal infantile hemangioma with extracutenous involvement
- Normosmic congenital hypogonadotropic hypogonadism
- Oculocerebrorenal syndrome of Lowe
- Subaortic stenosis-short stature syndrome
- Werner syndrome
- Williams syndrome
- X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
Common30–79%
15- Cleft palate-lateral synechia syndrome
- Cryptorchidism-arachnodactyly-intellectual disability syndrome
- Early-onset generalized limb-onset dystonia
- Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
- Facial dysmorphism-shawl scrotum-joint laxity syndrome
- Kallmann syndrome
- Laryngotracheoesophageal cleft
- Muscle-eye-brain disease
- Post-transplant lymphoproliferative disease
- Primary basilar invagination
- Prominent glabella-microcephaly-hypogenitalism syndrome
- Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
- Squamous cell carcinoma of the esophagus
- Sudden infant death-dysgenesis of the testes syndrome
- Symmetrical thalamic calcifications
Sometimes5–29%
13- Antisynthetase syndrome
- Blepharonasofacial malformation syndrome
- Cherubism
- Hajdu-Cheney syndrome
- Hereditary neuropathy with liability to pressure palsies
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- Metaphyseal chondrodysplasia, Rosenberg type
- Muckle-Wells syndrome
and 5 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Abnormality of the voice
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.