Ectodermal dysplasia - intellectual deficit - central nervous system malformation

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 49
OrphanetNr: 1812
OMIM Id: 225040
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
2
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
3
 (HPO:0000691) Microdontia Very frequent [Orphanet] 104 / 7739
4
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
5
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
6
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
7
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
8
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
9
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
10
 (HPO:0000492) Abnormality of the eyelid Occasional [Orphanet] 41 / 7739
11
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
12
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
13
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
14
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
15
 (HPO:0000490) Deeply set eye Occasional [Orphanet] 131 / 7739
16
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
17
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
18
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
19
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
20
 (HPO:0010864) Intellectual disability, severe 120 / 7739
21
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
22
 (HPO:0002558) Supernumerary nipple Occasional [Orphanet] 40 / 7739
23
 (HPO:0000832) Primary hypothyroidism 4 / 7739
24
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
25
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
26
 (HPO:0000924) Abnormality of the skeletal system 114 / 7739
27
 (HPO:0001852) Sandal gap Occasional [Orphanet] 63 / 7739
28
 (HPO:0002991) Abnormality of the fibula Occasional [Orphanet] 49 / 7739
29
 (HPO:0001561) Polyhydramnios Occasional [Orphanet] 191 / 7739
30
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
31
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
32
 (HPO:0001800) Hypoplastic toenails Occasional [Orphanet] 74 / 7739
33
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
34
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
35
 (HPO:0007607) Hypohidrotic ectodermal dysplasia 5 / 7739
36
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
37
 (HPO:0004370) Abnormality of temperature regulation Very frequent [Orphanet] 58 / 7739
38
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
39
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
40
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
41
 (HPO:0002119) Ventriculomegaly Very frequent [Orphanet] 253 / 7739
42
 (OMIM) Absent normal thyroid and ectopic goiter on technetium 99 thyroid scintigram 1 / 7739
43
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
44
 (OMIM) Low T3 and T4 1 / 7739
45
 (OMIM) Elevated TSH 3 / 7739
46
 (HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739
47
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
48
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739
49
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: