MCID: MDF004
MIFTS: 13

Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia

Categories: Metabolic diseases

Aliases & Classifications for Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal...

MalaCards integrated aliases for Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia:

Name: Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
sister of affected male siblings had mild learning disabilities and obesity


HPO:

31
midface hypoplasia, obesity, developmental delay, and neonatal hypotonia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal...

MalaCards based summary : Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia is related to brachydactyly and learning disability. Affiliated tissues include bone, and related phenotypes are malar flattening and low-set ears

More information from OMIM: 608624

Related Diseases for Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal...

Diseases related to Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachydactyly 10.4
2 learning disability 10.4
3 hypoglycemia 10.4
4 hypotonia 10.4

Symptoms & Phenotypes for Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal...

Human phenotypes related to Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 malar flattening 31 HP:0000272
2 low-set ears 31 HP:0000369
3 obesity 31 HP:0001513
4 frontal bossing 31 HP:0002007
5 ptosis 31 HP:0000508
6 global developmental delay 31 HP:0001263
7 delayed skeletal maturation 31 HP:0002750
8 depressed nasal bridge 31 HP:0005280
9 microtia 31 HP:0008551
10 brachydactyly 31 HP:0001156
11 neonatal hypotonia 31 HP:0001319
12 anteverted nares 31 HP:0000463
13 midface retrusion 31 HP:0011800
14 prominent forehead 31 HP:0011220
15 hypoglycemia 31 HP:0001943
16 generalized hypotonia 31 HP:0001290
17 thick lower lip vermilion 31 HP:0000179
18 epicanthus 31 HP:0000286
19 narrow mouth 31 HP:0000160
20 specific learning disability 31 HP:0001328
21 overfolded helix 31 HP:0000396
22 mixed hearing impairment 31 HP:0000410
23 broad lateral eyebrow 31 HP:0007933

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
small ears
mixed hearing loss
overfolded helices
thick helices

Head And Neck Eyes:
ptosis
epicanthal folds
broad lateral eyebrows

Head And Neck Nose:
anteverted nares
low nasal bridge

Neurologic Central Nervous System:
developmental delay
hypotonia (neonatal)

Skeletal:
delayed bone age

Metabolic Features:
hypoglycemia (neonatal)

Growth Weight:
obesity

Skeletal Hands:
brachydactyly

Head And Neck Face:
prominent forehead
midface hypoplasia

Head And Neck Mouth:
small mouth
full lips

Skin Nails Hair Hair:
broad lateral eyebrows
coarse scalp hair

Clinical features from OMIM:

608624

Drugs & Therapeutics for Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal...

Search Clinical Trials , NIH Clinical Center for Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia

Genetic Tests for Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal...

Anatomical Context for Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal...

MalaCards organs/tissues related to Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia:

40
Bone

Publications for Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal...

Articles related to Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia:

# Title Authors PMID Year
1
Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers. 61 56
12514359 2003

Variations for Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal...

Expression for Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal...

Search GEO for disease gene expression data for Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia.

Pathways for Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal...

GO Terms for Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal...

Sources for Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal...

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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