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  3. DUPD1

DUPD1 gene related symptoms and diseases

All the information presented here about the DUPD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to DUPD1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Feeding difficulties Very Common - Between 80% and 100% cases
Prominent nose Very Common - Between 80% and 100% cases
Scrotal hypoplasia Very Common - Between 80% and 100% cases
Polyhydramnios Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DUPD1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Hypothyroidism
  • Seizures
  • Patent ductus arteriosus
  • Long philtrum
  • Atrial septal defect
  • Ventricular septal defect
  • Depressed nasal bridge
  • Abnormality of cardiovascular system morphology

And 136 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to DUPD1 gene

Here you will find a list of rare diseases related to the DUPD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


OHDO SYNDROME

Alternate names

OHDO SYNDROME Is also known as ohdo blepharophimosis syndrome, mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

Most common symptoms of OHDO SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about OHDO SYNDROME

SOURCES: OMIM

GENITOPATELLAR SYNDROME

Alternate names

GENITOPATELLAR SYNDROME Is also known as absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome, absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

Description

Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.

Most common symptoms of GENITOPATELLAR SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about GENITOPATELLAR SYNDROME

SOURCES: ORPHANET MESH OMIM



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