Symbol
Name
ID

Flna
filamin, alpha
MGI:95556

Phenotype annotations related to skeleton

Darker colors indicate more annotations

Human Phenotypes

Frontal bossing

Prominent occiput

Biparietal narrowing

Brachycephaly

Brachyturricephaly

Craniosynostosis

Coronal craniosynostosis

Bicoronal synostosis

Unicoronal synostosis

Left unicoronal synostosis

Right unicoronal synostosis

Lambdoidal craniosynostosis

Pansynostosis

Sagittal craniosynostosis

Dolichocephaly

Scaphocephaly

Thickened calvaria

Trigonocephaly

Turricephaly

Oxycephaly

Micrognathia

Increased size of the mandible

Antegonial notching of mandible

Obtuse angle of mandible

Retrognathia

Hypoplasia of the maxilla

Absent frontal sinuses

Hypoplastic frontal sinuses

Malar flattening

Large foramen magnum

Shallow orbits

Flat sella turcica

Vertical clivus

Sclerosis of skull base

Thick skull base

Microcephaly

Progressive microcephaly

Macrocephaly

Metopic synostosis

Delayed cranial suture closure

Delayed closure of the anterior fontanelle

Wormian bones

Wide anterior fontanel

Large fontanelles

Encephalocele

Short neck

Bowing of the long bones

Radial bowing

Ulnar bowing

Femoral bowing

Lateral femoral bowing

Genu valgum

Tibial bowing

Increased density of long bone diaphyses

Radial deviation of the 2nd finger

Postaxial hand polydactyly

Short distal phalanx of finger

Shortening of all distal phalanges of the fingers

Broad distal phalanx of finger

Broad distal phalanx of the thumb

Cone-shaped epiphyses of the phalanges of the hand

Shortening of all middle phalanges of the fingers

Camptodactyly of finger

Broad phalanges of the hand

Broad thumb

Long phalanx of finger

Osteolytic defects of the phalanges of the hand

Triphalangeal thumb

Short thumb

Proximal placement of thumb

Short finger

Overlapping fingers

Interphalangeal joint contracture of finger

Arachnodactyly

Short hallux

Broad hallux

Hallux valgus

Cone-shaped epiphyses of the toes

Short toe

Bulbous tips of toes

Toe clinodactyly

Sandal gap

Camptodactyly of toe

Toe syndactyly

Clinodactyly

Preaxial polydactyly

Brachydactyly

Syndactyly

Coxa valga

Fibular aplasia

Rudimentary fibula

Nonossified fifth metatarsal

Abnormality of the fifth metatarsal bone

Short metatarsal

Metatarsus adductus

Abnormality of the tarsal bones

Rocker bottom foot

Bipartite calcaneus

Tarsal synostosis

Partial fusion of tarsals

Osteolysis involving bones of the lower limbs

Metaphyseal widening

Flared metaphysis

Dislocated radial head

Abnormal metacarpal morphology

Short 3rd metacarpal

Short 4th metacarpal

Short 5th metacarpal

Short metacarpal

Irregular metacarpals

Short humerus

Osteolysis involving bones of the upper limbs

Short palm

Abnormal foot bone ossification

Ankle flexion contracture

Hip dislocation

Congenital hip dislocation

Patellar dislocation

Knee flexion contracture

Genu recurvatum

Limited knee flexion

Scapular winging

Capitate-hamate fusion

Accessory carpal bones

Carpal bone malsegmentation

Carpal synostosis

Partial fusion of carpals

Synostosis of carpal bones

Abnormal hand bone ossification

Joint contracture of the hand

Elbow dislocation

Limited elbow movement

Elbow flexion contracture

Limited elbow extension

Wrist flexion contracture

Mesomelic arm shortening

Mesomelic leg shortening

Flexion contracture

Camptodactyly

Elbow contracture

Multiple joint contractures

Joint hypermobility

Limitation of joint mobility

Joint stiffness

Abnormal vertebral segmentation and fusion

Fused cervical vertebrae

Cervical C2/C3 vertebral fusion

Flared iliac wing

Hypoplastic ilia

Shoulder dislocation

Short clavicles

Lateral clavicle hook

Undulate clavicles

Abnormal rib morphology

Short ribs

Coat hanger sign of ribs

Supernumerary ribs

Thin ribs

Hypoplastic scapulae

Pectus carinatum

Pectus excavatum

Short thorax

Narrow chest

Kyphoscoliosis

Scoliosis

Anteriorly placed odontoid process

Anterior concavity of thoracic vertebrae

Platyspondyly

C1-C2 vertebral abnormality

Reversed usual vertebral column curves

Spondylolysis

Abnormal bone structure

Increased bone mineral density

Osteopenia

Skeletal dysplasia

Disease(s) Associated with FLNA

craniosynostosis

frontometaphyseal dysplasia 1

Melnick-Needles syndrome

mitral valve prolapse

otopalatodigital syndrome type 1

otopalatodigital syndrome type 2

periventricular nodular heterotopia

terminal osseous dysplasia

X-linked cardiac valvular dysplasia

X-linked chronic idiopathic intestinal pseudo-obstruction

Mouse Phenotypes		abnormal sternum morphology	abnormal xiphoid process morphology
Availability	Mouse Genotype	abnormal sternum morphology	abnormal xiphoid process morphology
	Flna^Dilp2/Flna⁺
	Flna^Dilp2/Y

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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