Prominent glabella - microcephaly - hypogenitalism

General Information (adopted from Orphanet):

Synonyms, Signs: Mac Dermot-Winter syndrome
Number of Symptoms 44
OrphanetNr: 2083
OMIM Id: 247990
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

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:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
2
 (HPO:0000126) Hydronephrosis 119 / 7739
3
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
4
 (HPO:0000046) Scrotal hypoplasia Very frequent [Orphanet] 54 / 7739
5
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
6
 (HPO:0000050) Hypoplastic male external genitalia 10 / 7739
7
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
8
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
9
 (HPO:0000294) Low anterior hairline 52 / 7739
10
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
11
 (HPO:0009553) Abnormality of the hairline Very frequent [Orphanet] 30 / 7739
12
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
13
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
14
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
15
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
16
 (HPO:0002553) Highly arched eyebrow Very frequent [Orphanet] 92 / 7739
17
 (HPO:0002057) Prominent glabella 8 / 7739
18
 (HPO:0005989) Redundant neck skin Frequent [Orphanet] 40 / 7739
19
 (HPO:0000430) Underdeveloped nasal alae Frequent [Orphanet] 90 / 7739
20
 (HPO:0000400) Macrotia 108 / 7739
21
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
22
 (HPO:0008544) Abnormally folded helix Very frequent [Orphanet] 24 / 7739
23
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
24
 (HPO:0000396) Overfolded helix 21 / 7739
25
 (HPO:0001263) Global developmental delay 853 / 7739
26
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
27
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
28
 (HPO:0006610) Wide intermamillary distance 46 / 7739
29
 (HPO:0004404) Abnormality of the nipple Very frequent [Orphanet] 54 / 7739
30
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
31
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
32
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
33
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
34
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
35
 (HPO:0002236) Frontal upsweep of hair 8 / 7739
36
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
37
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
38
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
39
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
40
 (OMIM) Facial anomalies 1 / 7739
41
 (OMIM) Partial camptodactyly 1 / 7739
42
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
43
 (HPO:0001522) Death in infancy 275 / 7739
44
 (OMIM) Low upswept frontal hairline 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: