Rare diseases · Sign or symptom
Absent speech
Absent speech development
HP:0001344
What it means
Complete lack of development of speech and language abilities.
This term should not be used in very young children.
Rare diseases that can present with this125
Very common80–99%
22- 1p36deletion syndrome
- Adenylosuccinate lyase deficiency
- Christianson syndrome
- Foix-Chavany-Marie syndrome
- FOXG1 syndrome due to 14q12 microdeletion
- Hall-Riggs syndrome
- Hypotonia-speech impairment-severe cognitive delay syndrome
- Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
- Intellectual disability-alacrima-achalasia syndrome
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
- Mucolipidosis type IV
- Polymicrogyria with optic nerve hypoplasia
- PRUNE1-related neurological syndrome
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- PYCR2-related microcephaly-progressive leukoencephalopathy
- Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
- Rett syndrome
- SATB2-associated syndrome due to a chromosomal rearrangement
- Severe Canavan disease
- X-linked intellectual disability, Cabezas type
- X-linked intellectual disability, Cantagrel type
Common30–79%
51- 19p13.3microduplication syndrome
- 21q22.11q22.12microdeletion syndrome
- Alacrimia-choreoathetosis-liver dysfunction syndrome
- Alobar holoprosencephaly
- Autosomal spastic paraplegia type 18
- Bainbridge-Ropers syndrome
- Basel-Vanagaite-Smirin-Yosef syndrome
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- Childhood disintegrative disorder
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- COG4-CDG
- Combined oxidative phosphorylation defect type 39
- Congenital muscular dystrophy with intellectual disability and severe epilepsy
- DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- FOXG1 syndrome
- GNB5-related intellectual disability-cardiac arrhythmia syndrome
- Growth delay-intellectual disability-hepatopathy syndrome
- Houge-Janssens syndrome type 1
- Houge-Janssens syndrome type 2
- Infantile dystonia-parkinsonism
- Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- Intellectual disability syndrome due to a DYRK1A point mutation
- Leukoencephalopathy with bilateral anterior temporal lobe cysts
- Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrome
- Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- Microcephaly-thin corpus callosum-intellectual disability syndrome
- Midline interhemispheric variant of holoprosencephaly
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- Muscle-eye-brain disease with bilateral multicystic leucodystrophy
- Oliver syndrome
- Pelizaeus-Merzbacher disease, connatal form
- Pitt-Hopkins syndrome
- Proximal 3p25.3 microdeletion syndrome
- SATB2-associated syndrome due to a pathogenic variant
- Semilobar holoprosencephaly
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
- TELO2-related intellectual disability-neurodevelopmental disorder
- Temple-Baraitser syndrome
- Transketolase deficiency
- TRAPPC11-related limb-girdle muscular dystrophy R18
- VPS11-related autosomal recessive hypomyelinating leukodystrophy
- WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
- X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
- X-linked intellectual disability, Schimke type
Sometimes5–29%
7- 3-methylglutaconic aciduria type 9
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- Angelman syndrome
- Angelman syndrome due to imprinting defect in 15q11-q13
- Angelman syndrome due to maternal 15q11q13 deletion
- Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
- Autosomal recessive spastic paraplegia type 77
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: Lack of language development · Lack of speech · No speech development · No speech or language development · Nonverbal
Absent 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.