Rare diseases · Sign or symptom
Delayed gross motor development
Delayed motor skills
HP:0002194
What it means
A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
Rare diseases that can present with this68
Very common80–99%
12- 3-methylglutaconic aciduria type 9
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
- Bilateral generalized polymicrogyria
- Bilateral parasagittal parieto-occipital polymicrogyria
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Musculocontractural Ehlers-Danlos syndrome
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
- Pontocerebellar hypoplasia type 10
- Spinocerebellar ataxia type 29
- X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
- X-linked intellectual disability, Nascimento type
Common30–79%
29- 16p12.1p12.3triplication syndrome
- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- ALG12-CDG
- Antenatal multiminicore disease with arthrogryposis multiplex congenita
- Autosomal dominant centronuclear myopathy
- Autosomal recessive spastic paraplegia type 63
- Barth syndrome
- CDKL5-deficiency disorder
- Christianson syndrome
- Classic multiminicore myopathy
- Congenital cerebellar ataxia due to RNU12 mutation
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- Dilated cardiomyopathy with ataxia
- Fragile X syndrome
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
- Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
- Kyphoscoliotic Ehlers-Danlos syndrome
- Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- Moderate multiminicore disease with hand involvement
- Mosaic trisomy 2 syndrome
- Osteopenia-intellectual disability-sparse hair syndrome
- POMT2-related limb-girdle muscular dystrophy R14
- Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
- Ramos-Arroyo syndrome
- Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
- Spastic paraplegia-optic atrophy-neuropathy syndrome
- WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
- Wiedemann-Steiner syndrome
- X-linked sideroblastic anemia and spinocerebellar ataxia
Sometimes5–29%
25- 11q22.2q22.3microdeletion syndrome
- Atypical Rett syndrome
- Autosomal recessive spastic paraplegia type 44
- Bannayan-Riley-Ruvalcaba syndrome
- Beckwith-Wiedemann syndrome
- Brachydactyly-short stature-retinitis pigmentosa syndrome
- Chronic visceral acid sphingomyelinase deficiency
- Congenital fibrosis of extraocular muscles
and 17 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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Delayed attainment of gross motor milestones · Delayed attainment of gross motor skills · Delayed development of gross motor milestones · Delayed development of gross motor skills · Delayed gross motor milestones · Delayed gross motor skills · Developmental delay, gross motor · Gross motor 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.