Traits

Traits linked to NOG

noggin

The Human Phenotype Ontology links 102 traits to NOG, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Fused innermost hinge joints	Alati
Fused outermost bones of hand	Alati
Fused wrist bones	Alati
Abnormality of the ankle	Väga sageli (80–99%)
Broad big toe	Väga sageli (80–99%)
Broad thumb	Väga sageli (80–99%)
Fused ankle bones	Väga sageli (80–99%)
Fused finger bones	Väga sageli (80–99%)
Fusion of wrist bones	Väga sageli (80–99%)
Permanent flexion of the finger	Väga sageli (80–99%)
Short fingers or toes	Väga sageli (80–99%)
Short foot	Väga sageli (80–99%)
Short outermost bone of toe	Väga sageli (80–99%)
Short outermost finger bone	Väga sageli (80–99%)
Short palm	Väga sageli (80–99%)
Short toe	Väga sageli (80–99%)
Type B brachydactyly	Väga sageli (80–99%)
Abnormal shape of long bones of hand	Sageli (30–79%)
Absent phalangeal crease	Sageli (30–79%)
Absent proximal finger flexion creases	Sageli (30–79%)
Absent/small middle bones of toe	Sageli (30–79%)
Absent/small middle finger bone of the hand	Sageli (30–79%)
Absent/small outermost bones of toe	Sageli (30–79%)
Absent/small outermost finger bone of the hand	Sageli (30–79%)
Attachment of thumb close to wrist	Sageli (30–79%)
Bilateral single transverse palmar creases	Sageli (30–79%)
Curvature of finger	Sageli (30–79%)
Elbow ankylosis	Sageli (30–79%)
Elbow dislocation	Sageli (30–79%)
Finger syndactyly	Sageli (30–79%)
Fused innermost and middle bone of fourth finger	Sageli (30–79%)
Fused innermost and middle bones of little finger	Sageli (30–79%)
Fused long bone of hand with innermost finger bone	Sageli (30–79%)
Fused toes	Sageli (30–79%)
Radial deviation of finger	Sageli (30–79%)
Short middle bone of the little finger	Sageli (30–79%)
Shortened 1st long bone of hand	Sageli (30–79%)
Webbed fingers	Sageli (30–79%)
Webbed skin of toes	Sageli (30–79%)
Abnormality of the wrist	Mõnikord (5–29%)
Curvature of 4th toe	Mõnikord (5–29%)
Curvature of little finger	Mõnikord (5–29%)
Fused innermost and middle bones of 4th toe	Mõnikord (5–29%)
Fused innermost and middle pinkie toe bones	Mõnikord (5–29%)
Fusion of upper and lower arm bones	Mõnikord (5–29%)
Hypoplastic/small middle phalanx of the 5th toe	Mõnikord (5–29%)
Outward turned elbows	Mõnikord (5–29%)
Short middle bone of 4th finger	Mõnikord (5–29%)
Underdeveloped inner large forearm bone	Mõnikord (5–29%)
Absent outermost hand bone	Pole registreeritud
Curvature of digit	Pole registreeritud
Dislocated radial head	Pole registreeritud
Lower limb undergrowth	Pole registreeritud
Progressive fusion 2nd-5th proximal interphalangeal joints	Pole registreeritud
Short big toe	Pole registreeritud
Short finger	Pole registreeritud
Short humerus	Pole registreeritud
Short lower limbs	Pole registreeritud
Shortened 5th long bone of hand	Pole registreeritud
Single transverse palmar crease	Pole registreeritud
Webbed 2nd and 3rd toes	Pole registreeritud

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Thin red part of the upper lip	Väga sageli (80–99%)
Limited neck range of motion	Sageli (30–79%)
Long nose	Sageli (30–79%)
Low hanging columella	Sageli (30–79%)
Underdeveloped tissue around nostril	Sageli (30–79%)
Wide nasal bridge	Sageli (30–79%)
Asymmetry of the mouth	Mõnikord (5–29%)
Facial asymmetry	Mõnikord (5–29%)
Upward slanting of the opening between the eyelids	Mõnikord (5–29%)
Decreased size of nasal septum	Pole registreeritud
Full upper lip	Pole registreeritud
Narrow face	Pole registreeritud
Short philtrum	Pole registreeritud

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Joint stiffness	Väga sageli (80–99%)
Proximal symphalangism	Väga sageli (80–99%)
Cone-shaped end part of bone	Sageli (30–79%)
Fused neck	Sageli (30–79%)
Enlargement of the costochondral junction	Pole registreeritud
Funnel chest	Pole registreeritud
Narrow spinal canal	Pole registreeritud
Short sternum	Pole registreeritud
Underdeveloped spinal processes	Pole registreeritud

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Conductive deafness	Väga sageli (80–99%)
Congenital stapes ankylosis	Väga sageli (80–99%)
Stapes ankylosis	Väga sageli (80–99%)
Sensorineural hearing impairment	Sageli (30–79%)
Bilateral conductive hearing impairment	Mõnikord (5–29%)
Hearing abnormality	Mõnikord (5–29%)
Progressive conductive hearing impairment	Pole registreeritud

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Farsightedness	Väga sageli (80–99%)
Drooping upper eyelid	Sageli (30–79%)
Astigmatism	Mõnikord (5–29%)
Cross-eyed	Mõnikord (5–29%)
Lazy eye	Mõnikord (5–29%)

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Absent fingernail	Väga sageli (80–99%)
Absent/small nails	Sageli (30–79%)
Abnormality of the nail	Mõnikord (5–29%)
Absent nails	Pole registreeritud
Absent/small toenails	Pole registreeritud

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Waddling gait	Mõnikord (5–29%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Short stature	Väga sageli (80–99%)

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 NOG and how often each is seen. Find out more at hpo.jax.org.

Üks test. Vastused kogu eluks.

Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast

Telli oma Genome Test