11Q Research and Resource Group
Support, research and yearly conference to support those with any abnormalities of the 11th chromosome.
9pMinus/Alfi’s Syndrome: Chromosome 9pMinus Network
Resources for individuals with Monosomy 9p.
ADCY5.org
Research and resources for those with ADCY5-related dyskinesia including free genetic testing through the PTC Pinpoint CP Spectrum Genetic Testing Program.
Chromosome 18 Registry and Research Society
Dedicated to research and information for all anomalies of Chromosome 18.
Chromosome Disorder Outreach
Raises awareness and provides resources for those with rare chromosome disorders.
Distal Trisomy 10q Families
Registry of individuals with Trisomy10q that helps provide data, support and resources.
Duplication Cares
Support and information for those affected by 7q11.23 Duplication.
DYRK1A Syndrome
Nonprofit organization created to provide parent-to-parent support services for families of children afflicted with a variety of chronic and critical disorders, syndromes and diseases that affect a
Five P Minus Society
Provides information, education and support for families, educators, and medical professionals about 5P Minus or Cris Du Chat Syndrome.
GeneCards
Integrative database that provides comprehensive, user-friendly information on all annotated and predicted human genes.
Global Genes
The leading rare and genetic disease patient advocacy nonprofit organization. Centered on increasing rare disease awareness, education and supporting research initiatives to find treatments and cures.
Helping Hands for GAND
Supports families affected by GATAD2B-associated neurodevelopmental disorder and works toward research and treatment.
International Foundation for CDKL5 Research
Information, research and support on CDKL5.
IRF2BPL Foundation
Provides research funds and information for patients, families, physicians and scientists working together to support treatment for IRF2BPL-related disorders.
KBG Foundation
Research, information and supports for children living with KBG and their families.
MedlinePlus: Genetics
Parent-friendly introduction to fundamental topics related to human genetics, including illustrations and explanations of genes, testing, therapy and research.
Mowat-Wilson Syndrome Foundation
Patient registry, research, grants and family support for those with Mowat-Wilson Syndrome.
3131 Berger Ave.
www.mowat-wilson.org
www.mowat-wilson.org
Orange Socks
Nonprofit that provides parents searching for a diagnosis (or parents with newly diagnosed children) with links to national organizations. Also connects expectant parents who have in-utero diagnoses with a parent who has a child with the same or similar diagnosis.
Phelan-McDermid Syndrome (PMS) Foundation
Information, patient registry and support for people living with 22q13 Deletion Syndrome (PMS).
Pitt Hopkins Research Foundation
Resources, research and support for people with Pitt-Hopkins.
Potocki-Shaffer Syndrome
Information and support for those living with 11P 11.2 Deletion.
PURA Syndrome Foundation
Information and support for children with a genetic anomaly of 5Q 31.3.
Rady Children’s Center for CHARGE Syndrome
Coordinated multispecialty care for children with CHARGE Syndrome.
Rady Children’s Genetics & Dysmorphology Program
Evaluation and management of rare diseases, congenital anomalies and genetic syndromes.
Rady Children’s Prader-Willi Clinic
Manages medical, nutritional, developmental and behavioral needs of children with Prader-Willi Syndrome.
Rett Syndrome and Related Disorders Communication Program -Milestone Pediatric Therapy
Monthly group offers children and teens who communicate using AAC systems the chance to practice language and social communication within fun, cooperative activities. Participants need not be receiving therapy from Milestone Pediatric. First lesson free to ensure compatibility.
San Diego Undiagnosed Family Support Group
Quarterly meetings with interesting speakers and Facebook support group for parents of children with special needs who do not know the etiology of their child’s condition or illness. Fun activities for children are available while the parents meet.
SATB2 Gene Foundation
Medical information and resources for people with SATB2-associated syndrome.
Simons Searchlight
Online community supporting families with rare genetic variants associated with Autism and developmental delay. Provides resources, information and support.
Stickler Involved People (SIP)
In partnership with the Marfan Foundation, offers resources for those with Stickler Syndrome.
STXBP1 Disorders
Parent organization that provides funds for research and supports scientists and medical professionals dedicated to ending STXBP1 Epileptic Encephalopathy.
SYNGAP1 Foundation
Dedicated to improving the lives of families affected by SYNGAP1 and related neurological disorders.
The Association for X and Y Chromosome Variations (AXYS)
Dedicated to providing information, connection and support to individuals with one or more extra X or Y chromosomes.
Williams Syndrome Association
Online patient registry, resources, parent roadmap and clinic registry.