1. Mendelian
  2. Rare Diseases
  3. KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

Kaufman Oculocerebrofacial Syndrome; Kos

Table of contents:

Genes related to Kaufman Oculocerebrofacial Syndrome; Kos

  • INSR
  • UBE3B

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Kaufman Oculocerebrofacial Syndrome; Kos

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Nystagmus

And another 122 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Kaufman Oculocerebrofacial Syndrome; Kos Is also known as blepharophimosis-ptosis-intellectual disability syndrome, bpids.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Kaufman Oculocerebrofacial Syndrome; Kos Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Maturity-onset Diabetes of the Young Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

BLK, HNF1A, HNF1B, KLF11, CEL, AKT2, GCK, HNF4A, ABCC8, INS, INSR, PDX1, KCNJ11, NEUROD1, PAX4
Specificity
7 %
Genes
50 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
50 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
50 %
INSR deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago (United States).

INSR
Specificity
100 %
Genes
50 %
INSR sequencing.

By Genetic Services Laboratory University of Chicago (United States).

INSR
Specificity
100 %
Genes
50 %
Comprehensive Familial Hyperinsulinism Panel.

By Genetic Services Laboratory University of Chicago (United States).

SLC16A1, HNF1A, UCP2, KDM6A, GCK, GLUD1, HADH, HNF4A, ABCC8, INSR, KCNJ11, KMT2D, PGM1, PMM2
Specificity
8 %
Genes
50 %
Inherited Insulin Resistance Syndromes (INSR) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

INSR
Specificity
100 %
Genes
50 %
INSR. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

INSR
Specificity
100 %
Genes
50 %

You can get up to 54 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11 PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP NEUROFIBROMATOSIS, TYPE II; NF2 46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT MOEBIUS SYNDROME