NEDDFL
MCID: NRD037
MIFTS: 23

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 56 73 29 6
Neddfl 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation


HPO:

31
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies:
Inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 73 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, also known as neddfl, is related to silver-russell syndrome and diencephalic syndrome. 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 abnormality of the cerebral white matter and hypertelorism

OMIM : 56 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...

Diseases related to Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 10.3
2 diencephalic syndrome 10.3

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

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

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 abnormality of the cerebral white matter 31 very rare (1%) HP:0002500
2 hypertelorism 31 HP:0000316
3 clinodactyly 31 HP:0030084
4 intellectual disability 31 HP:0001249
5 global developmental delay 31 HP:0001263
6 delayed speech and language development 31 HP:0000750
7 pes planus 31 HP:0001763
8 short stature 31 HP:0004322
9 micrognathia 31 HP:0000347
10 microcephaly 31 HP:0000252
11 broad nasal tip 31 HP:0000455
12 generalized hypotonia 31 HP:0001290
13 strabismus 31 HP:0000486
14 epicanthus 31 HP:0000286
15 narrow mouth 31 HP:0000160
16 small hand 31 HP:0200055
17 thin upper lip vermilion 31 HP:0000219
18 upslanted palpebral fissure 31 HP:0000582
19 overlapping toe 31 HP:0001845
20 sandal gap 31 HP:0001852
21 slender finger 31 HP:0001238
22 prominent nose 31 HP:0000448
23 short palpebral fissure 31 HP:0012745
24 broad hallux 31 HP:0010055

Symptoms via clinical synopsis from OMIM:

56
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

Muscle Soft Tissue:
hypotonia

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

Head And Neck Mouth:
thin upper lip
small mouth

Growth Other:
poor overall growth

Clinical features from OMIM:

617755

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...

Genetic tests related to Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies:

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies 29 BPTF

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

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

40
Pituitary

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

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

# Title Authors PMID Year
1
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 56 6
28942966 2017
2
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome. 61
30633344 2019

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

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BPTF NM_182641.4(BPTF):c.989del (p.Leu330fs)deletion Pathogenic 431072 rs1135401778 17:65850431-65850431 17:67854315-67854315
2 BPTF NM_182641.4(BPTF):c.2482dup (p.Glu828fs)duplication Pathogenic 431064 rs1555639411 17:65890218-65890219 17:67894102-67894103
3 BPTF NM_182641.4(BPTF):c.4836_4837TG[1] (p.Val1613fs)short repeat Pathogenic 431065 rs1555652383 17:65908836-65908837 17:67912720-67912721
4 BPTF NM_182641.4(BPTF):c.8701A>T (p.Lys2901Ter)SNV Pathogenic 431066 rs1555693714 17:65972049-65972049 17:67975933-67975933
5 BPTF NM_182641.4(BPTF):c.8609T>G (p.Met2870Arg)SNV Pathogenic/Likely pathogenic 431071 rs782736894 17:65971957-65971957 17:67975841-67975841
6 BPTF NM_182641.4(BPTF):c.8625dup (p.Asn2876Ter)duplication Likely pathogenic 689464 17:65971972-65971973 17:67975856-67975857
7 BPTF NM_182641.4(BPTF):c.2832_2843del (p.941_944NMDE[1])deletion Uncertain significance 690388 17:65905706-65905717 17:67909590-67909601
8 BPTF NM_182641.4(BPTF):c.3310G>C (p.Glu1104Gln)SNV Uncertain significance 800753 17:65907310-65907310 17:67911194-67911194

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

73
# Symbol AA change Variation ID SNP ID
1 BPTF p.Ala1924Thr VAR_080531
2 BPTF p.Met2996Arg VAR_080532

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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