Rare diseases · Sign or symptom
Severe global developmental delay
HP:0011344
What it means
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Rare diseases that can present with this99
Very common80–99%
47- 14q11.2microdeletion syndrome
- 1q41q42microdeletion syndrome
- 4q21microdeletion syndrome
- 8p inverted duplication/deletion syndrome
- Adenylosuccinate lyase deficiency
- Adrenomyodystrophy
- Aicardi syndrome
- Amish lethal microcephaly
- Angelman syndrome
- Arthrogryposis multiplex congenita-whistling face syndrome
- Basel-Vanagaite-Smirin-Yosef syndrome
- Bowen-Conradi syndrome
- Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- Christianson syndrome
- Coffin-Lowry syndrome
- COFS syndrome
- Combined oxidative phosphorylation defect type 29
- Corpus callosum agenesis-abnormal genitalia syndrome
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
- Distal deletion 10p syndrome
- Early-onset epilepsy-intellectual disability-brain anomalies syndrome
- Fryns syndrome
- Gamma-aminobutyric acid transaminase deficiency
- Hall-Riggs syndrome
- Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- Intellectual disability-epilepsy-extrapyramidal syndrome
- Intellectual disability, Wolff type
- MECP2-related severe neonatal encephalopathy
- MEHMO syndrome
- Monosomy 5p syndrome
- Multiple congenital anomalies-hypotonia-seizures syndrome
- Neonatal adrenoleukodystrophy
- Non-syndromic bilambdoid and sagittal craniosynostosis
- Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
- Polymicrogyria with optic nerve hypoplasia
- Pontocerebellar hypoplasia type 2
- Proximal Xq28 duplication syndrome
- PYCR2-related microcephaly-progressive leukoencephalopathy
- Qazi-Markouizos syndrome
- Ring chromosome 7 syndrome
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
- Sporadic fetal brain disruption sequence
- TELO2-related intellectual disability-neurodevelopmental disorder
- Trisomy 13 syndrome
- X-linked intellectual disability, Cantagrel type
- X-linked intellectual disability, Najm type
Common30–79%
33- 21q22.11q22.12microdeletion syndrome
- 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
- ALG1-CDG
- ALG2-CDG
- Atypical Rett syndrome
- Autosomal recessive cutis laxa type 2A
- CDKL5-deficiency disorder
- Cerebello-oculo-facio-genital syndrome
- Cobblestone lissencephaly without muscular or ocular involvement
- COG8-CDG
- Combined oxidative phosphorylation defect type 39
- Congenital insensitivity to pain with severe intellectual disability
- Cono-spondylar dysplasia
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- Donohue syndrome
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- Fallot complex-intellectual disability-growth delay syndrome
- FOXG1 syndrome
- Guanidinoacetate methyltransferase deficiency
- Helsmoortel-Van der Aa syndrome
- Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
- Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
- Keppen-Lubinsky syndrome
- Lethal infantile mitochondrial myopathy
- Lissencephaly syndrome, Norman-Roberts type
- Lowry-MacLean syndrome
- Methylcobalamin deficiency type cblE
- Microcephalic cortical malformations-short stature due to RTTN deficiency
- Mitochondrial DNA-associated Leigh syndrome
- Muscle-eye-brain disease with bilateral multicystic leucodystrophy
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
- SATB2-associated syndrome due to a chromosomal rearrangement
- TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism 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: Global developmental delay, severe · Severe psychomotor retardation
Severe global developmental delay
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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.