Rare diseases · Sign or symptom
Abnormal speech pattern
HP:0002167
What it means
An abnormality in the sound (volume) or cadence (rate) of speech.
The term Abnormal speech pattern includes both psychiatric and neurological conditions that affect the rate, rhythm, and volume of expressed speech.
Rare diseases that can present with this145
Very common80–99%
57- 1p36deletion syndrome
- 3C syndrome
- 3-methylglutaconic aciduria type 9
- 48,XXYY syndrome
- Acromesomelic dysplasia, Hunter-Thompson type
- Albinism-deafness syndrome
- Alexander disease
- Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
- Angelman syndrome
- Argininemia
- Aspartylglucosaminuria
- Ataxia-telangiectasia
- Bainbridge-Ropers syndrome
- Cardiofaciocutaneous syndrome
- Carnitine palmitoyl transferase 1A deficiency
- Cerebellar ataxia-hypogonadism syndrome
- Coffin-Lowry syndrome
- Cohen syndrome
- Congenital rubella syndrome
- DDOST-CDG
- Early-onset parkinsonism-intellectual disability syndrome
- Ectodermal dysplasia-blindness syndrome
- Familial or sporadic hemiplegic migraine
- Fragile X syndrome
- GATA2 deficiency spectrum
- German syndrome
- Helsmoortel-Van der Aa syndrome
- Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
- Intellectual disability, Buenos-Aires type
- Isolated childhood apraxia of speech
- Isolated glycerol kinase deficiency
- Lujan-Fryns syndrome
- Marinesco-Sjögren syndrome
- Megalocornea-intellectual disability syndrome
- Muscle-eye-brain disease
- Muscular pseudohypertrophy-hypothyroidism syndrome
- Neuronal intranuclear inclusion disease
- Noonan syndrome
- Otofaciocervical syndrome
- Peroxisomal acyl-CoA oxidase deficiency
- Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
- Proximal Xq28 duplication syndrome
- Radioulnar synostosis-developmental delay-hypotonia syndrome
- Sialidosis type 1
- Smith-Magenis syndrome
- Spastic paraplegia-facial-cutaneous lesions syndrome
- Spastic paraplegia-nephritis-deafness syndrome
- Spinocerebellar ataxia type 34
- Stormorken-Sjaastad-Langslet syndrome
- Toluene embryopathy
- Trisomy 13 syndrome
- Trisomy 20p syndrome
- Wieacker-Wolff syndrome
- Williams syndrome
- Worster-Drought syndrome
- X-linked intellectual disability, Cabezas type
- X-linked sideroblastic anemia and spinocerebellar ataxia
Common30–79%
23- 22q11.2duplication syndrome
- Angelman syndrome due to maternal 15q11q13 deletion
- Aniridia-cerebellar ataxia-intellectual disability syndrome
- Ataxia-deafness-intellectual disability syndrome
- Ataxia-pancytopenia syndrome
- Ataxia with vitamin E deficiency
- Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
- Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
- Branchio-oculo-facial syndrome
- Cerebellar ataxia-ectodermal dysplasia syndrome
- Cleft lip/palate-ectodermal dysplasia syndrome
- Cornelia de Lange syndrome
- Cyanide-induced parkinsonism-dystonia
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- Deafness-small bowel diverticulosis-neuropathy syndrome
- Encephalocraniocutaneous lipomatosis
- Facial dysmorphism-shawl scrotum-joint laxity syndrome
- Familial infantile bilateral striatal necrosis
- Freeman-Sheldon syndrome
- Free sialic acid storage disease
- GM1 gangliosidosis
- Herpes simplex virus encephalitis
- Huntington disease-like 3
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
Also called: Abnormal speech · Abnormal vocalisation · Abnormal vocalization · Abnormality of speech or vocalization
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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.