Rare diseases · Sign or symptom
Abnormal brain morphology
Abnormal shape of brain
HP:0012443
What it means
A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.
Rare diseases that can present with this33
Very common80–99%
5Common30–79%
19- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- Autosomal recessive spastic paraplegia type 20
- Carnitine palmitoyl transferase II deficiency, neonatal form
- Congenital muscular dystrophy with cerebellar involvement
- Cysticercosis
- Developmental and speech delay due to SOX5 deficiency
- Helsmoortel-Van der Aa syndrome
- Intellectual disability-strabismus syndrome
- Isolated exencephaly
- MAN1B1-CDG
- Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- Neuromyelitis optica spectrum disorder
- Pancreatic agenesis-holoprosencephaly syndrome
- Pyruvate dehydrogenase E1-alpha deficiency
- Schuurs-Hoeijmakers syndrome
- Short stature-brachydactyly-obesity-global developmental delay syndrome
- SRD5A3-CDG
- Temple-Baraitser syndrome
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Sometimes5–29%
6The 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: Abnormality of brain morphology · Abnormality of the brain
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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.