NEDDFL
MCID: NRD037
MIFTS: 18

Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies (NEDDFL)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

MalaCards integrated aliases for Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies:

Name: Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies 57 75 6
Neddfl 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation


HPO:

32
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies:
Onset and clinical course phenotypic variability


Classifications:



Summaries for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

UniProtKB/Swiss-Prot : 75 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies: An autosomal dominant neurodevelopmental disorder characterized by variable degrees of developmental delay, intellectual disability, speech delay, postnatal microcephaly, dysmorphic features, and mild abnormalities of the hands and feet.

MalaCards based summary : Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies, is also known as neddfl. An important gene associated with Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies is BPTF (Bromodomain PHD Finger Transcription Factor). Affiliated tissues include pituitary, and related phenotypes are hypertelorism and clinodactyly

OMIM : 57 NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017). (617755)

Related Diseases for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
epicanthal folds
short palpebral fissures
upslanting palpebral fissures
more
Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
white matter abnormalities (in some patients)
delayed speech
pituitary hypoplasia (in some patients)

Growth Height:
short stature

Head And Neck Nose:
broad nasal tip
prominent nose
long nasal bridge

Head And Neck Mouth:
small mouth
thin upper lip

Head And Neck Head:
microcephaly, mild (-2 to -3 sd)

Skeletal Hands:
clinodactyly
small hands
slender fingers

Skeletal Feet:
pes planus
sandal gap
overlapping toes
broad halluces

Head And Neck Face:
micrognathia

Muscle Soft Tissue:
hypotonia

Growth Other:
poor overall growth


Clinical features from OMIM:

617755

Human phenotypes related to Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 clinodactyly 32 HP:0030084
3 intellectual disability 32 HP:0001249
4 global developmental delay 32 HP:0001263
5 delayed speech and language development 32 HP:0000750
6 pes planus 32 HP:0001763
7 strabismus 32 HP:0000486
8 epicanthus 32 HP:0000286
9 small hand 32 HP:0200055
10 narrow mouth 32 HP:0000160
11 upslanted palpebral fissure 32 HP:0000582
12 sandal gap 32 HP:0001852
13 broad nasal tip 32 HP:0000455
14 thin upper lip vermilion 32 HP:0000219
15 slender finger 32 HP:0001238
16 prominent nose 32 HP:0000448
17 short palpebral fissure 32 HP:0012745
18 abnormality of the cerebral white matter 32 very rare (1%) HP:0002500
19 broad hallux 32 HP:0010055
20 overlapping toe 32 HP:0001845

Drugs & Therapeutics for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies

Genetic Tests for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

Anatomical Context for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies:

41
Pituitary

Publications for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

Variations for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies:

75
# Symbol AA change Variation ID SNP ID
1 BPTF p.Ala1924Thr VAR_080531
2 BPTF p.Met2996Arg VAR_080532

ClinVar genetic disease variations for Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BPTF NM_004459.6(BPTF): c.989delT (p.Leu330Argfs) deletion Pathogenic rs1135401778 GRCh38 Chromosome 17, 67854315: 67854315
2 BPTF NM_004459.6(BPTF): c.989delT (p.Leu330Argfs) deletion Pathogenic rs1135401778 GRCh37 Chromosome 17, 65850431: 65850431
3 BPTF NM_004459.6(BPTF): c.2860dup (p.Glu954Glyfs) duplication Pathogenic GRCh38 Chromosome 17, 67894104: 67894104
4 BPTF NM_004459.6(BPTF): c.2860dup (p.Glu954Glyfs) duplication Pathogenic GRCh37 Chromosome 17, 65890220: 65890220
5 BPTF NM_004459.6(BPTF): c.5216_5217delTG (p.Val1739Glyfs) deletion Pathogenic GRCh38 Chromosome 17, 67912722: 67912723
6 BPTF NM_004459.6(BPTF): c.5216_5217delTG (p.Val1739Glyfs) deletion Pathogenic GRCh37 Chromosome 17, 65908838: 65908839
7 BPTF NM_004459.6(BPTF): c.8558T> G (p.Met2853Arg) single nucleotide variant Pathogenic/Likely pathogenic rs782736894 GRCh38 Chromosome 17, 67975841: 67975841
8 BPTF NM_004459.6(BPTF): c.8558T> G (p.Met2853Arg) single nucleotide variant Pathogenic/Likely pathogenic rs782736894 GRCh37 Chromosome 17, 65971957: 65971957
9 BPTF NM_004459.6(BPTF): c.8650A> T (p.Lys2884Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 67975933: 67975933
10 BPTF NM_004459.6(BPTF): c.8650A> T (p.Lys2884Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 65972049: 65972049

Expression for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies.

Pathways for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

GO Terms for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

Sources for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
35 ICD9CM
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49 NCI
50 NCIt
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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