Rare diseases · Sign or symptom
Motor delay
HP:0001270
What it means
A type of Developmental delay characterized by a delay in acquiring motor skills.
Rare diseases that can present with this216
Very common80–99%
51- 15q overgrowth syndrome
- 20p13microdeletion syndrome
- 2q23.1microduplication syndrome
- 47,XYY syndrome
- 7p22.1microduplication syndrome
- 9q33.3q34.11microdeletion syndrome
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- Angelman syndrome
- Arthrochalasia Ehlers-Danlos syndrome
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
- Autosomal recessive cutis laxa type 2, classic type
- Autosomal recessive myogenic arthrogryposis multiplex congenita
- Bilateral frontoparietal polymicrogyria
- Blepharophimosis-intellectual disability syndrome, Ohdo type
- CAMOS syndrome
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- COG5-CDG
- Contractures-developmental delay-Pierre Robin syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Duchenne muscular dystrophy
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
- FOXG1 syndrome
- Hypocalcemic vitamin D-dependent rickets
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- Hypotonia-speech impairment-severe cognitive delay syndrome
- Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
- Infantile multisystem neurologic-endocrine-pancreatic disease
- Intellectual disability-alacrima-achalasia syndrome
- Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
- Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
- Laminin subunit alpha 2-related congenital muscular dystrophy
- Leukoencephalopathy with bilateral anterior temporal lobe cysts
- Mucolipidosis type II
- Neonatal Marfan syndrome
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- Pontocerebellar hypoplasia type 1
- Prader-Willi syndrome
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Proximal 16p11.2 microduplication syndrome
- Proximal 3p25.3 microdeletion syndrome
- Ring chromosome 7 syndrome
- Schaaf-Yang syndrome
- Severe Canavan disease
- SIM1-related Prader-Willi-like syndrome
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- Temple syndrome
- Temple syndrome due to maternal uniparental disomy of chromosome 14
- Temple syndrome due to paternal 14q32.2 hypomethylation
- Temple syndrome due to paternal 14q32.2 microdeletion
Common30–79%
28- 15q11.2microdeletion syndrome
- 19p13.3microduplication syndrome
- 7q11.23microduplication syndrome
- Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
- Alpha-mannosidosis, infantile form
- Amish nemaline myopathy
- Aromatic L-amino acid decarboxylase deficiency
- Autosomal recessive ataxia, Beauce type
- Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
- Autosomal recessive centronuclear myopathy
- Autosomal recessive cutis laxa type 1
- Autosomal recessive dopa-responsive dystonia
- Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
- Autosomal recessive spastic paraplegia type 20
- Autosomal recessive spastic paraplegia type 45
- Autosomal recessive spastic paraplegia type 9B
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- Bartter syndrome type 4
- Benign Samaritan congenital myopathy
- Bilateral polymicrogyria
- Cap myopathy
- Central core disease
- Charcot-Marie-Tooth disease type 1F
- Charcot-Marie-Tooth disease type 4A
- Charcot-Marie-Tooth disease type 4D
- Childhood-onset nemaline myopathy
- CHST3-related skeletal dysplasia
- CNTNAP2-related developmental and epileptic encephalopathy
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: Delay in development of motor milestones · Delay in motor development · Delayed development of motor milestones · Delayed early motor milestones · Delayed motor development · Delayed motor milestones · Locomotor delay · Motor 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.