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Microcephaly - lymphedema - chorioretinopathy
1 OMIM reference -
1 associated gene
13 connected diseases
48 signs/symptoms
Disease Type of connection
Amyotrophic lateral sclerosis
Distal hereditary motor neuropathy type 7
Perry syndrome
Young adult-onset Parkinsonism
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Autosomal dominant spastic paraplegia type 10
Synonym(s):
- MLCRD
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C537711
Gene symbol UniProt reference OMIM reference
KIF11 P52732148760
Very frequent
- Anomalies of eyes and vision
- Lymphedema
- Microcephaly

Frequent
- Abnormal nails colour / leukonychia / melanonychia
- Abnormal toenails
- Cutaneous edema
- Hair and scalp anomalies
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Myopia
- Retinitis pigmentosa / retinal pigmentary changes

Occasional
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Anomalies of eyelids, eyelashes and lacrimal system
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Anteverted nares / nostrils
- Atrial septal defect / interauricular communication
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Broad cheeks / cherub-like / cherubin face
- Broad nose / nasal bridge
- Cataract / lens opacification
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Chronic skin infection / ulcerations / ulcers / cancrum
- Dry / squaly skin / exfoliation
- Epicanthic folds
- Erysipela
- Flat supraorbital ridge
- Gangrena / necrosis
- Glaucoma
- Hematologic / blood / lymphatic cancer
- Hypertonia / spasticity / rigidity / stiffness
- Long philtrum
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Pointed chin
- Prominent / bat ears
- Ptosis
- Retinal detachment
- Retinal / chorioretinal dysplasia / dystrophy
- Retinopathy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism
- Sloping forehead
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Thick lips
- Thick skin / pachydermia / orange skin
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Venous thrombosis / phlebitis / thrombophlebitis
- Visual loss / blindness / amblyopia