Rare diseases · Sign or symptom
Poor speech
HP:0002465
Rare diseases that can present with this97
Very common80–99%
12- 1p36deletion syndrome
- 2q23.1microduplication syndrome
- Angelman syndrome
- Autosomal recessive cutis laxa type 2, classic type
- Behavioral variant of frontotemporal dementia
- Fried syndrome
- Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- Wilson-Turner syndrome
- X-linked intellectual disability, Nascimento type
Common30–79%
51- 8p23.1microdeletion syndrome
- Alacrimia-choreoathetosis-liver dysfunction syndrome
- Angelman syndrome due to paternal uniparental disomy of chromosome 15
- Basel-Vanagaite-Smirin-Yosef syndrome
- Beta-propeller protein-associated neurodegeneration
- Cerebellar-facial-dental syndrome
- Cerebello-oculo-facio-genital syndrome
- CNTNAP2-related developmental and epileptic encephalopathy
- COG8-CDG
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Distal deletion 10q syndrome
- DYRK1A-related intellectual disability syndrome
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- Dystonia-parkinsonism-hypermanganesemia syndrome
- Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- Guanidinoacetate methyltransferase deficiency
- Houge-Janssens syndrome type 1
- Houge-Janssens syndrome type 2
- Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
- Isolated childhood apraxia of speech
- Koolen-De Vries syndrome
- Lobar holoprosencephaly
- MAN1B1-CDG
- Microcephalic cortical malformations-short stature due to RTTN deficiency
- Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrome
- Microcephaly-thin corpus callosum-intellectual disability syndrome
- Mild Canavan disease
- MORM syndrome
- Mucolipidosis type II
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
- Ocular anomalies-axonal neuropathy-developmental delay syndrome
- Oliver syndrome
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
- POMGNT2-related limb-girdle muscular dystrophy R24
- Postencephalitic parkinsonism
- Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
- Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
- Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
- Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
- Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
- Severe intellectual disability and progressive spastic paraplegia
- Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- SYNGAP1-related developmental and epileptic encephalopathy
- TELO2-related intellectual disability-neurodevelopmental disorder
- Trigeminal neuralgia
- VPS11-related autosomal recessive hypomyelinating leukodystrophy
- X-linked intellectual disability-cerebellar hypoplasia syndrome
Sometimes5–29%
17- 21q22.11q22.12microdeletion syndrome
- Alobar holoprosencephaly
- Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
- Angelman syndrome due to imprinting defect in 15q11-q13
- Angelman syndrome due to maternal 15q11q13 deletion
- Autosomal dominant deafness-onychodystrophy syndrome
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- Congenital muscular dystrophy with intellectual disability
and 9 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
Also called: Difficulty speaking · Problems speaking
Poor speech
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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.