1q41q42 Microdeletion Syndrome

Description

1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.

Clinical Features

Top most frequent phenotypes and symptoms related to 1q41q42 Microdeletion Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Strabismus

And another 44 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

1q41q42 Microdeletion Syndrome Is also known as 1q41-q42 microdeletion syndrome, del(1)(q41q42), monosomy 1q41q42, hpe10, included, monosomy 1q41-q42, holoprosencephaly 10, included.

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.

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 SENIOR-LOKEN SYNDROME 5; SLSN5 PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C NAIL-PATELLA SYNDROME CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I COLOBOMA OF MACULA MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA MENTAL RETARDATION, X-LINKED 30; MRX30