Developmental delay-microcephaly-short…

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Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome

ORPHA:717854Malformation syndrome

Also called TEBIVANED syndrome · Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Inheritance
Autosomal dominant
Classified as
Malformation syndrome

Genes

H4C3Disease-causing germline mutation(s)
H4C5Disease-causing germline mutation(s)
H4C9Disease-causing germline mutation(s)

Cross-references

OMIM 619758OMIM 619759OMIM 619950OMIM 619951

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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