Rare diseases · Sign or symptom
Specific learning disability
HP:0001328
What it means
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation.
Rare diseases that can present with this181
Very common80–99%
42- 12q14microdeletion syndrome
- 16p13.11microdeletion syndrome
- 5q35microduplication syndrome
- Alpha-mannosidosis, infantile form
- Autosomal recessive spastic paraplegia type 11
- Baraitser-Winter cerebrofrontofacial syndrome
- Blepharophimosis-intellectual disability syndrome, SBBYS type
- Distal deletion 10q syndrome
- Down syndrome
- Duchenne muscular dystrophy
- Familial Alzheimer-like prion disease
- Fetal alcohol syndrome
- Filippi syndrome
- Goldberg-Shprintzen megacolon syndrome
- Grange syndrome
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- Ichthyosis follicularis-alopecia-photophobia syndrome
- Kleefstra syndrome due to 9q34 microdeletion
- Lamb-Shaffer syndrome
- Lathosterolosis
- Lenz-Majewski hyperostotic dysplasia
- Marden-Walker syndrome
- Marinesco-Sjögren syndrome
- Microbrachycephaly-ptosis-cleft lip syndrome
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Mietens syndrome
- Myhre syndrome
- Neuroectodermal melanolysosomal disease
- Neurofibromatosis-Noonan syndrome
- Neurofibromatosis type 1
- Nicolaides-Baraitser syndrome
- Occipital horn syndrome
- Oculocerebrofacial syndrome, Kaufman type
- Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
- Orofaciodigital syndrome type 4
- Perlman syndrome
- Pitt-Hopkins syndrome
- Trisomy 8q syndrome
- Ulna hypoplasia-intellectual disability syndrome
- Walker-Warburg syndrome
- X-linked adrenoleukodystrophy
- X-linked epilepsy-learning disabilities-behavior disorders syndrome
Common30–79%
38- 17q11microdeletion syndrome
- 22q11.2deletion syndrome
- 47,XYY syndrome
- 6q16microdeletion syndrome
- Alobar holoprosencephaly
- Alström syndrome
- Argininosuccinic aciduria
- Autism spectrum disorder due to AUTS2 deficiency
- Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- Autosomal recessive spastic paraplegia type 20
- Autosomal recessive spastic paraplegia type 32
- Bardet-Biedl syndrome
- Bilateral perisylvian polymicrogyria
- Branchiogenic deafness syndrome
- Cerebrotendinous xanthomatosis
- Classic galactosemia
- Congenital bile acid synthesis defect type 4
- Congenital insensitivity to pain with severe intellectual disability
- Congenital intrinsic factor deficiency
- Danon disease
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Dihydropyrimidine dehydrogenase deficiency
- Distal 7q11.23 microdeletion syndrome
- Distal triplication 15q syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Feingold syndrome type 1
- FRAXE intellectual disability
- Hereditary sensory and autonomic neuropathy type 4
- HSD10 disease
- Hyperinsulinism-hyperammonemia syndrome
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Hypertelorism-microtia-facial clefting syndrome
- Intellectual disability-facial dysmorphism-hand anomalies syndrome
- Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
- Isolated childhood apraxia of speech
- Legius syndrome
- Lobar holoprosencephaly
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax 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
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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.