Knobloch syndrome 1
MONDO:0800167Mondo
Findings
No curated finding names Knobloch syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Childhood onset
HPO, annotations 2026-09-02
Features
66 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent septum pellucidumHPOHP:0001331
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Bulbous noseHPOHP:0000414
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Chorioretinal atrophyHPOHP:0000533
- 21 of 21 reported patients
- Gaze-evoked nystagmusHPOHP:0000640
- 1 of 1 reported patient
- GlaucomaHPOHP:0000501
- 1 of 1 reported patient
- Horizontal eyebrowHPOHP:0011228
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Macular hypoplasiaHPOHP:0001104
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
Show the remaining 54
- Myoclonic seizureHPOHP:0032794
- 1 of 1 reported patient
- Narrow faceHPOHP:0000275
- 1 of 1 reported patient
- Narrow foreheadHPOHP:0000341
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- 2 of 2 reported patients · Infantile onset
- 3 of 5 reported patients
- Frequent (30% to 79% of cases)
- Occipital meningoceleHPOHP:0002436
- 1 of 1 reported patient
- Peripapillary atrophyHPOHP:0500087
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COL18A1HGNC:2195
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
5 names
Resolves to: Knobloch syndrome 1
- Also called
- KNO1Knobloch syndrome type 1Knobloch syndrome, type 1Knobloch-Layer syndromeretinal detachment-occipital encephalocele syndrome