Neurofibromatosis-noonan Syndrome; Nfns

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Neurofibromatosis-noonan Syndrome; Nfns

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Neurofibromatosis-noonan Syndrome; Nfns

Global developmental delay
Short stature
Scoliosis
Hypertelorism
Muscle weakness
Cryptorchidism
Ptosis
Low-set ears
Delayed speech and language development
Depressed nasal bridge

And another 31 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

Neurofibromatosis-noonan Syndrome; Nfns Is also known as neurofibromatosis with noonan phenotype, noonan-neurofibromatosis syndrome.

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.

Neurofibromatosis-noonan Syndrome; Nfns Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neurofibromatosis Type 1 Deletion Test. By Athena Diagnostics Inc (United States). NF1 Specificity 100 % Genes 100 %
Neurofibromatosis Type 1 (NF1) Evaluation. By Athena Diagnostics Inc (United States). NF1 Specificity 100 % Genes 100 %
Neurofibromatosis Type 1 DNA Sequencing Test. By Athena Diagnostics Inc (United States). NF1 Specificity 100 % Genes 100 %
NGS RASopathy Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS , (...) View the complete list with 3 more genes Panel complete gene list RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, PTPN11, RAF1, RASA2 Specificity 5 % Genes 100 %
Neurofibromatosis Syndrome Type 1. By Center for Human Genetics, Inc (United States). NF1 Specificity 100 % Genes 100 %
Neurofibromatosis-Noonan syndrome. By Center for Human Genetics, Inc (United States). NF1 Specificity 100 % Genes 100 %
Neurofibromatosis 1 Sequencing. By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States). NF1 Specificity 100 % Genes 100 %
Neurofibromatosis 1 Deletion/Duplication analysis. By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States). NF1 Specificity 100 % Genes 100 %

You can get up to 272 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1 COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME; BVSYS BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME JOUBERT SYNDROME 15; JBTS15 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2 PERRAULT SYNDROME 5; PRLTS5