Rare diseases · Sign or symptom
Delayed speech and language development
Deficiency of speech development
HP:0000750
What it means
A degree of language development that is significantly below the norm for a child of a specified age.
Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation.
Rare diseases that can present with this315
Very common80–99%
80- 12q14microdeletion syndrome
- 14q11.2microduplication syndrome
- 15q11q13microduplication syndrome
- 16p13.11microdeletion syndrome
- 17q23.1q23.2microdeletion syndrome
- 17q24.2microdeletion syndrome
- 19p13.12microdeletion syndrome
- 19p13.3microduplication syndrome
- 19q13.11microdeletion syndrome
- 1p36deletion syndrome
- 1q44microdeletion syndrome
- 20q13.33microdeletion syndrome
- 2p15p16.1microdeletion syndrome
- 2q23.1microdeletion syndrome
- 2q32q33deletion syndrome
- 47,XYY syndrome
- 48,XYYY syndrome
- 49,XXXYY syndrome
- 49,XYYYY syndrome
- 4q21microdeletion syndrome
- 5q14.3microdeletion syndrome
- 6q16microdeletion syndrome
- 6q terminal deletion syndrome
- 7p22.1microduplication syndrome
- 7q11.23microduplication syndrome
- 8p inverted duplication/deletion syndrome
- 9q33.3q34.11microdeletion syndrome
- Ablepharon macrostomia syndrome
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- Alpha-mannosidosis, infantile form
- Angelman syndrome
- Aspartylglucosaminuria
- Autism spectrum disorder due to AUTS2 deficiency
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
- Autosomal recessive cerebelloparenchymal disorder type 3
- Autosomal recessive cutis laxa type 2, classic type
- Autosomal recessive frontotemporal pachygyria
- Bilateral frontal polymicrogyria
- Bilateral parasagittal parieto-occipital polymicrogyria
- Blepharophimosis-intellectual disability syndrome, Ohdo type
- CK syndrome
- Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
- CNTNAP2-related developmental and epileptic encephalopathy
- COG5-CDG
- Congenital muscular dystrophy, Fukuyama type
- Contractures-developmental delay-Pierre Robin syndrome
- De Barsy syndrome
- Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
- Developmental and speech delay due to SOX5 deficiency
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Distal 16p11.2 microdeletion syndrome
- Distal 7q11.23 microduplication syndrome
- Distal deletion 10q syndrome
- Distal deletion 6p syndrome
- Distal Xq28 microduplication syndrome
- Duchenne muscular dystrophy
- DYRK1A-related intellectual disability syndrome
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
- FOXP1 Syndrome
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- Grubben-de Cock-Borghgraef syndrome
- Hao-Fountain syndrome due to 16p13.2 microdeletion
- Helsmoortel-Van der Aa syndrome
- Houge-Janssens syndrome type 1
- Hypotonia-speech impairment-severe cognitive delay syndrome
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
- Intellectual disability-seizures-macrocephaly-obesity syndrome
- Intellectual disability syndrome due to a DYRK1A point mutation
- Isolated childhood apraxia of speech
- Isolated congenital hypoglossia/aglossia
- KDM5C-related syndromic X-linked intellectual disability
- Kleefstra syndrome
- Malonic aciduria
- Mandibulofacial dysostosis-microcephaly syndrome
- MASA syndrome
- Microduplication Xp11.22p11.23 syndrome
- Microlissencephaly
- Microtriplication 11q24.1 syndrome
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: Delayed language development · Delayed speech · Delayed speech acquisition · Delayed speech development · Impaired speech and language development · Impaired speech development · Language delay · Language delayed
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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.