ORPHA:698085

Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome

Synonyms: TMEM147-related neurodevelopmental disorder

Type: Malformation syndrome
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Antenatal, Infancy, Neonatal
Status: active

A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, severe language delay/absence of language and impaired motor skills. All affected individuals present with dysmorphic features including coarse facies, prominent forehead, board depressed nasal root, long smooth philtrum, tented mouth, and low-set ears. Behavioral problems including tendency of self-injury, hyperactivity, aggressivity, and outbursts of anger are reported in the majority of the patients. Defects in nuclear lobulation, reminiscent of Pelger-Huët anomaly are frequently detected in cytological examinations.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome	TMEM147-related neurodevelopmental disorder
fr	Syndrome de retard global de développement-déficience intellectuelle-dysmorphie faciale-anomalie pseudo-Pelger-Huët	Trouble du neurodéveloppement associé à TMEM147
de	Globale Entwicklungsverzögerung-Intelligenzminderung-Gesichtsdysmorphie-Pseudo-Pelger-Huët-Anomalie-Syndrom	NEDFLPH · Neurologische Entwicklungsstörung mit Gesichtsdysmorphien, fehlender Sprache und pseudo-Pelger-Huët-Anomalie · Neurologische Entwicklungsstörung, TMEM147-assoziierte
es	Síndrome de retraso global del desarrollo-discapacidad intelectual-dismorfia facial-pseudoanomalía de Pelger-Huët	Trastorno del neurodesarrollo asociado a TMEM147
it	Sindrome ritardo dello sviluppo globale-disabilità intellettiva-dismorfismi facciali -anomalia pseudo-Pelger-Huët	Malattia del neurosviluppo correlata a TMEM147
nl	Algehele ontwikkelingsachterstand - intellectuele achterstand - faciale dysmorfie - pseudo-anomalie van Pelger-Huët-syndroom	TMEM147-gerelateerde neurologische ontwikkelingsstroonis
pt	Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome
pl	Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome	= en
cs	Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome	= en

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	620075	E		validated
ICD-10	Q87.8	NTBT	attributed	validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (2):

ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases
ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TMEM147	Disease-causing germline mutation(s) in	Assessed	HGNC:30414	ENSG00000105677	613585	19q13.12	transmembrane protein 147	36044892[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		25 cases	Worldwide	Case(s)	Validated	36044892[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	36044892[PMID]_ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/698085
This record as JSON: /data/d/698085.json