Traits

Traits linked to CCDC88A

coiled-coil and HOOK domain protein 88A

The Human Phenotype Ontology links 30 traits to CCDC88A, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Absent speech development	Alati
Degeneration of cerebellum	Alati
Fewer and broader ridges in brain	Alati
Fewer or absent grooves in brain	Alati
Grand mal seizures	Alati
Hypsarrhythmia	Alati
Increased reflexes	Alati
IQ less than 20	Alati
Jerking	Alati
More grooves in brain	Alati
Profound global developmental delay	Alati
Repeated seizures without recovery between them	Alati
Underdevelopment of part of brain called corpus callosum	Alati
Ventriculomegaly	Alati
Infantile encephalopathy	Pole registreeritud

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Eye folds	Alati
Full cheeks	Alati
Narrow forehead	Alati
Open mouth	Alati
Progressively abnormally small cranium	Alati
Receding chin	Alati
Short nose	Alati
Sloping forehead	Pole registreeritud

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Optic atrophy	Alati
Visual fixation instability	Alati

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Low muscle tone	Alati
Low muscle tone, in neonatal onset	Alati

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Tapered finger	Alati

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Feeding difficulties	Alati

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Fluid retention	Alati

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

The Human Phenotype Ontology, release 2026-09-01: the traits linked to CCDC88A and how often each is seen. Find out more at hpo.jax.org.

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