NEDDISH
MCID: NRD107
MIFTS: 22

Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia (NEDDISH)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Dysmorphic Facies, Impaired...

MalaCards integrated aliases for Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia:

Name: Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia 57 6
Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech and Hypotonia 57
Neddish 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity
onset in infancy or first years of life
some patients may have normal early development


HPO:

31
neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia:
Inheritance autosomal recessive inheritance
Onset and clinical course death in childhood


Classifications:



Summaries for Neurodevelopmental Disorder with Dysmorphic Facies, Impaired...

OMIM® : 57 Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH) is an autosomal recessive disorder characterized by global developmental delay and mildly to severely impaired intellectual development with poor speech and language acquisition. Some patients may have early normal development with onset of the disorder in the first years of life. More variable neurologic abnormalities include hypotonia, seizures, apnea, mild signs of autonomic or peripheral neuropathy, and autism. Aside from dysmorphic facial features and occasional findings such as scoliosis or undescended testes, other organ systems are not involved (summary by Schneeberger et al., 2020). (619005) (Updated 05-Mar-2021)

MalaCards based summary : Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia, is also known as neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia. An important gene associated with Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia is MADD (MAP Kinase Activating Death Domain). Affiliated tissues include testes, brain and heart, and related phenotypes are frontal bossing and eeg abnormality

Related Diseases for Neurodevelopmental Disorder with Dysmorphic Facies, Impaired...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Dysmorphic Facies, Impaired...

Human phenotypes related to Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia:

31 (show all 49)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 31 very rare (1%) HP:0002007
2 eeg abnormality 31 very rare (1%) HP:0002353
3 scoliosis 31 very rare (1%) HP:0002650
4 kyphosis 31 very rare (1%) HP:0002808
5 high palate 31 very rare (1%) HP:0000218
6 hepatomegaly 31 very rare (1%) HP:0002240
7 depressed nasal bridge 31 very rare (1%) HP:0005280
8 delayed speech and language development 31 very rare (1%) HP:0000750
9 short nose 31 very rare (1%) HP:0003196
10 thick vermilion border 31 very rare (1%) HP:0012471
11 anteverted nares 31 very rare (1%) HP:0000463
12 neonatal hypotonia 31 very rare (1%) HP:0001319
13 stereotypy 31 very rare (1%) HP:0000733
14 cryptorchidism 31 very rare (1%) HP:0000028
15 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
16 intrauterine growth retardation 31 very rare (1%) HP:0001511
17 micrognathia 31 very rare (1%) HP:0000347
18 thrombocytopenia 31 very rare (1%) HP:0001873
19 motor delay 31 very rare (1%) HP:0001270
20 neonatal respiratory distress 31 very rare (1%) HP:0002643
21 dental crowding 31 very rare (1%) HP:0000678
22 dolichocephaly 31 very rare (1%) HP:0000268
23 impaired pain sensation 31 very rare (1%) HP:0007328
24 micropenis 31 very rare (1%) HP:0000054
25 highly arched eyebrow 31 very rare (1%) HP:0002553
26 pointed chin 31 very rare (1%) HP:0000307
27 broad forehead 31 very rare (1%) HP:0000337
28 high forehead 31 very rare (1%) HP:0000348
29 chronic diarrhea 31 very rare (1%) HP:0002028
30 severe global developmental delay 31 very rare (1%) HP:0011344
31 decreased body weight 31 very rare (1%) HP:0004325
32 underdeveloped nasal alae 31 very rare (1%) HP:0000430
33 plagiocephaly 31 very rare (1%) HP:0001357
34 moderate global developmental delay 31 very rare (1%) HP:0011343
35 long eyelashes 31 very rare (1%) HP:0000527
36 alacrima 31 very rare (1%) HP:0000522
37 autistic behavior 31 very rare (1%) HP:0000729
38 short palpebral fissure 31 very rare (1%) HP:0012745
39 self-mutilation 31 very rare (1%) HP:0000742
40 exotropia 31 very rare (1%) HP:0000577
41 chronic constipation 31 very rare (1%) HP:0012450
42 delayed cns myelination 31 very rare (1%) HP:0002188
43 excessive femoral anteversion 31 very rare (1%) HP:0012427
44 decreased hemoglobin concentration 31 very rare (1%) HP:0020062
45 low insertion of columella 31 very rare (1%) HP:0010763
46 seizure 31 very rare (1%) HP:0001250
47 extra-axial cerebrospinal fluid accumulation 31 very rare (1%) HP:0012510
48 decreased heart rate variability 31 very rare (1%) HP:0031861
49 intellectual disability 31 HP:0001249

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis
kyphosis

Head And Neck Nose:
depressed nasal bridge

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Teeth:
dental crowding

Neurologic Central Nervous System:
hypotonia
seizures (in some patients)
dystonia (in some patients)
poor or absent speech
delayed walking, mild
more
Genitourinary External Genitalia Male:
small penis

Neurologic Peripheral Nervous System:
decreased pain sensation (in some patients)

Head And Neck Mouth:
high palate
small mouth

Head And Neck Face:
full cheeks
broad forehead
high forehead
dysmorphic facial features, variable and nonspecific

Head And Neck Ears:
low-set ears

Head And Neck Head:
plagiocephaly
dolicocephaly
macrocephaly (+4 sd in 1 family)

Neurologic Behavioral Psychiatric Manifestations:
autistic features
adhd

Respiratory:
respiratory insufficiency (perinatal)
apneic episodes (perinatal)

Clinical features from OMIM®:

619005 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Dysmorphic Facies, Impaired...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia

Genetic Tests for Neurodevelopmental Disorder with Dysmorphic Facies, Impaired...

Anatomical Context for Neurodevelopmental Disorder with Dysmorphic Facies, Impaired...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia:

40
Testes, Brain, Heart

Publications for Neurodevelopmental Disorder with Dysmorphic Facies, Impaired...

Articles related to Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia:

# Title Authors PMID Year
1
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. 6 57
32761064 2020
2
Genetics of intellectual disability in consanguineous families. 6 57
29302074 2019
3
Expanding the genetic heterogeneity of intellectual disability. 57 6
28940097 2017

Variations for Neurodevelopmental Disorder with Dysmorphic Facies, Impaired...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MADD NM_003682.4(MADD):c.593G>A (p.Arg198His) SNV Pathogenic 978079 11:47296644-47296644 11:47275093-47275093
2 MADD NM_003682.4(MADD):c.979C>T (p.Arg327Ter) SNV Pathogenic 418287 rs147179561 11:47298298-47298298 11:47276747-47276747
3 MADD NM_003682.4(MADD):c.3559del (p.Val1186_Met1187insTer) Deletion Pathogenic 978081 11:47317089-47317089 11:47295538-47295538
4 MADD NM_003682.4(MADD):c.1061C>T (p.Pro354Leu) SNV Pathogenic 978082 11:47298380-47298380 11:47276829-47276829
5 MADD NM_003682.4(MADD):c.3637_3638del (p.Asp1212_Ser1213insTer) Deletion Pathogenic 978087 11:47317484-47317485 11:47295933-47295934

Expression for Neurodevelopmental Disorder with Dysmorphic Facies, Impaired...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia.

Pathways for Neurodevelopmental Disorder with Dysmorphic Facies, Impaired...

GO Terms for Neurodevelopmental Disorder with Dysmorphic Facies, Impaired...

Sources for Neurodevelopmental Disorder with Dysmorphic Facies, Impaired...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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