DEDDFA
MCID: DVL024
MIFTS: 20

Developmental Delay with or Without Dysmorphic Facies and Autism (DEDDFA)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Developmental Delay with or Without Dysmorphic Facies and Autism

MalaCards integrated aliases for Developmental Delay with or Without Dysmorphic Facies and Autism:

Name: Developmental Delay with or Without Dysmorphic Facies and Autism 57 29 6
Deddfa 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
de novo mutation
group a patients are more severely affected and tend to have multisystemic involvement


Classifications:



External Ids:

OMIM 57 618454

Summaries for Developmental Delay with or Without Dysmorphic Facies and Autism

OMIM : 57 Developmental delay with or without dysmorphic facies and autism (DEDDFA) is a complex neurodevelopmental disorder apparent from infancy or early childhood and associated with variably impaired intellectual development. Some patients may be severely affected with no speech and inability to walk, whereas others may be able to attend special schools or have normal intellectual function associated with autism spectrum disorder and mild speech delay. Genetic analysis has suggested that the phenotype can be broadly categorized into 2 main groups. Patients with TRRAP mutations affecting residues 1031-1159 have a more severe disorder, often with multisystem involvement, including renal, cardiac, and genitourinary systems, as well as structural brain abnormalities. Patients with mutations outside of that region tend to have a less severe phenotype with a higher incidence of autism and usually no systemic involvement. Patients in both groups usually have somewhat similar dysmorphic facial features, such as upslanting palpebral fissures, hypertelorism, low-set ears, and broad or depressed nasal bridge, although these features are highly variable (summary by Cogne et al., 2019). (618454)

MalaCards based summary : Developmental Delay with or Without Dysmorphic Facies and Autism, is also known as deddfa. An important gene associated with Developmental Delay with or Without Dysmorphic Facies and Autism is TRRAP (Transformation/Transcription Domain Associated Protein). Affiliated tissues include brain, heart and uterus.

Related Diseases for Developmental Delay with or Without Dysmorphic Facies and Autism

Symptoms & Phenotypes for Developmental Delay with or Without Dysmorphic Facies and Autism

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
visual impairment
hypotelorism
epicanthal folds
deep-set eyes
more
Muscle Soft Tissue:
inguinal hernia
umbilical hernia
hypotonia

Head And Neck Nose:
depressed nasal bridge
wide nasal bridge
short nose
prominent nasal bridge
narrow nose
more
Growth Height:
short stature

Abdomen Gastrointestinal:
feeding difficulties
tube feeding (group a)

Genitourinary External Genitalia Male:
cryptorchidism
microphallus
hypoplastic scrotum

Genitourinary Kidneys:
hydronephrosis
renal cysts
small kidneys
cystic dysplasia

Respiratory Larynx:
laryngotracheomalacia

Skeletal Hands:
fifth finger clinodactyly
tapering digits
brachydactyly, small hands

Chest Breasts:
accessory nipple

Neurologic Behavioral Psychiatric Manifestations:
obsessive-compulsive disorder
autism spectrum disorder

Head And Neck Head:
microcephaly (group a)

Skeletal Spine:
scoliosis (group a)

Head And Neck Ears:
low-set ears
hearing impairment
posteriorly rotated ears

Neurologic Central Nervous System:
global developmental delay
absent speech
polymicrogyria
cerebellar vermis hypoplasia
poor speech
more
Head And Neck Face:
smooth philtrum
prominent forehead
micrognathia
short philtrum
dysmorphic features, variable

Head And Neck Mouth:
cleft palate
wide mouth
cleft lip
thin upper lip

Cardiovascular Heart:
patent ductus arteriosus
patent foramen ovale
septal defects
coarctation of the aorta
congenital heart malformations (group a)

Genitourinary Bladder:
vesicoureteral reflux

Chest Diaphragm:
congenital diaphragmatic hernia

Cardiovascular Vascular:
pulmonary hypertension

Skin Nails Hair Nails:
small nails
dysplastic nails (group a)
scooped nails

Skeletal Feet:
small feet
cutaneous syndactyly of toes 2/3

Genitourinary Internal Genitalia Female:
duplicated uterus
duplicated vagina

Genitourinary:
genitourinary malformations (group a)

Clinical features from OMIM:

618454

Drugs & Therapeutics for Developmental Delay with or Without Dysmorphic Facies and Autism

Search Clinical Trials , NIH Clinical Center for Developmental Delay with or Without Dysmorphic Facies and Autism

Genetic Tests for Developmental Delay with or Without Dysmorphic Facies and Autism

Genetic tests related to Developmental Delay with or Without Dysmorphic Facies and Autism:

# Genetic test Affiliating Genes
1 Developmental Delay with or Without Dysmorphic Facies and Autism 29 TRRAP

Anatomical Context for Developmental Delay with or Without Dysmorphic Facies and Autism

MalaCards organs/tissues related to Developmental Delay with or Without Dysmorphic Facies and Autism:

41
Brain, Heart, Uterus, Kidney, Eye

Publications for Developmental Delay with or Without Dysmorphic Facies and Autism

Articles related to Developmental Delay with or Without Dysmorphic Facies and Autism:

# Title Authors PMID Year
1
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. 8 71
30827496 2019
2
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. 8 71
30424743 2018
3
Neurogenetic analysis of childhood disintegrative disorder. 8
28392909 2017
4
De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. 8
23042115 2012
5
Exome sequencing supports a de novo mutational paradigm for schizophrenia. 8
21822266 2011

Variations for Developmental Delay with or Without Dysmorphic Facies and Autism

ClinVar genetic disease variations for Developmental Delay with or Without Dysmorphic Facies and Autism:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TRRAP NM_001244580.1(TRRAP): c.6011G> A (p.Arg2004Gln) single nucleotide variant Pathogenic 7:98553863-98553863 7:98956240-98956240
2 TRRAP NM_001244580.1(TRRAP): c.2413C> T (p.Leu805Phe) single nucleotide variant Pathogenic 7:98515093-98515093 7:98917470-98917470
3 TRRAP NM_001244580.1(TRRAP): c.3127G> A (p.Ala1043Thr) single nucleotide variant Pathogenic 7:98524941-98524941 7:98927318-98927318
4 TRRAP NM_001244580.1(TRRAP): c.5596T> A (p.Trp1866Arg) single nucleotide variant Pathogenic 7:98550943-98550943 7:98953320-98953320
5 TRRAP NM_001244580.1(TRRAP): c.5598G> T (p.Trp1866Cys) single nucleotide variant Pathogenic 7:98550945-98550945 7:98953322-98953322

Expression for Developmental Delay with or Without Dysmorphic Facies and Autism

Search GEO for disease gene expression data for Developmental Delay with or Without Dysmorphic Facies and Autism.

Pathways for Developmental Delay with or Without Dysmorphic Facies and Autism

GO Terms for Developmental Delay with or Without Dysmorphic Facies and Autism

Sources for Developmental Delay with or Without Dysmorphic Facies and Autism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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