Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MRD21
Number of Symptoms 26
OrphanetNr: 363611
OMIM Id: 615502
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0000233) Thin vermilion border 124 / 7739
4
 (HPO:0000164) Abnormality of the teeth 291 / 7739
5
 (HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
6
 (HPO:0000486) Strabismus 576 / 7739
7
 (HPO:0000540) Hypermetropia 99 / 7739
8
 (HPO:0001249) Intellectual disability 1089 / 7739
9
 (HPO:0001263) Global developmental delay 853 / 7739
10
 (HPO:0000729) Autistic behavior rare [HPO:skoehler] 27 / 7739
11
 (HPO:0000717) Autism 108 / 7739
12
 (HPO:0011968) Feeding difficulties 240 / 7739
13
 (HPO:0004322) Short stature 1232 / 7739
14
 (HPO:0011648) Patent ductus arteriosus after birth at term 18 / 7739
15
 (HPO:0001631) Atria septal defect rare [HPO:skoehler] 274 / 7739
16
 (HPO:0001643) Patent ductus arteriosus rare [HPO:skoehler] 228 / 7739
17
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
18
 (HPO:0001252) Muscular hypotonia 990 / 7739
19
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
20
 (HPO:0010547) Muscle flaccidity 466 / 7739
21
 (HPO:0001324) Muscle weakness 859 / 7739
22
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
 (OMIM) Mental retardation, variable severity 2 / 7739
24
 (OMIM) Aortic coarctation, mild (rare) 1 / 7739
25
 (OMIM) Prominent incisors 2 / 7739
26
 (OMIM) Small teeth apart from incisors (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM By trio exome sequencing in a 9.5-year-old boy with mild intellectual disability, short stature, microcephaly, cleft palate, and congenital heart defects, Gregor et al. (2013) identified a de novo frameshift mutation in the CTCF gene (604167.0001). Screening of ...