Synonym(s): - Atrophia bulborum hereditaria - Episkopi blindness - Norrie-Warburg disease
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease Entire classification		Classification (ICD10): - Diseases of the eye and adnexa - See
Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: x-linked recessive		External references: 1 OMIM reference - See 1 MeSH reference: C537849
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
NDP	Q00604	300658

- Aniridia / iris hypoplasia
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cataract / lens opacification
- Corneal clouding / opacity / vascularisation
- Deepset eyes / enophthalmos
- Eye neoplasm / tumor / carcinoma / cancer
- Hypotelorism
- Iridocorneal / iridolenticular synechiae
- Long / large ear
- Narrow nasal bridge
- Retinal vascular anomalies / retinal telangiectasia
- Retinal / chorioretinal dysplasia / dystrophy
- Sclerocornea
- Vascular malignancy / tumor
- Visual loss / blindness / amblyopia
- X-linked recessive inheritance

- Aphakia / microphakia / spherophakia / biphakia / absence of lens / lenticone / lentiglobus
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Impotence / painful erection / priapism / erection troubles
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Nystagmus
- Psychosis / schizophrenia / maniac disorder
- Retinal detachment
- Sensorineural deafness / hearing loss
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals
- Tics / stereotypias
- Varices / varicous veins / venous insufficiency
- Vitreous anomalies / hyalitis / persistent vitreous vascularisation

- Autism / autistic disoders
- Auto-aggressivity / auto-mutilation
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Delirium / hallucination
- Diabetes mellitus
- Early death / lethality
- EEG anomalies
- Facial pain / cephalalgia / migraine
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flat cheek bones / malar hypoplasia
- Glaucoma
- Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits
- Hyperactivity / attention deficit
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Late puberty / hypogonadism / hypogenitalism
- Lens dislocation / luxation / subluxation / ectopia lentis
- Microcephaly
- Midbrain / brainstem / pons / medulla anomalies
- Muscle weakness / flaccidity
- Myoclonus / fasciculations
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Prominent / bat ears
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sleep and vigilance disorders
- Thalamic / hypothalamic defect
- Thin / retracted lips
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy