Synonym(s): (no synonyms)
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		External references: 2 OMIM references - See 1 MeSH reference: C536079
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
HYLS1	Q96M11	610693
KIF7	Q2M1P5	611254

- Autosomal recessive inheritance
- Corpus callosum / septum pellucidum total / partial agenesis
- Hydrocephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Polyhydramnios
- Postaxial polydactyly (hand)
- Prematurity
- Stillbirth / neonatal death

- Anomalies of nose and olfaction
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Congenital cardiac anomaly / malformation / cardiopathy
- Deepset eyes / enophthalmos
- Laryngomalacia
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Low set ears / posteriorly rotated ears
- Structural anomalies of the respiratory system and diaphragm
- Tracheal atresia / stenosis

- Anencephaly / acrania
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Short limbs / micromelia / brachymelia
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Uterine / uterus / Fallopian tubes anomalies