Disease

Noonan syndrome-like disorder with loose anagen hair

Definition

A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay.

Synonyms

None

Cross References

Parent Terms

RASopathy

Child Terms

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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