In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment. [diseaseinfosearch.org]

Epileptic seizures often begin as infantile spasms, which should alert the physician to look for other symptoms of this disorder. [emedicine.medscape.com]

facial features Coarse facial appearance 0000280 Male pseudohermaphroditism 0000037 Narrow palpebral fissure Small opening between the eyelids 0045025 Obesity Having too much body fat 0001513 Postnatal growth retardation Growth delay as children 0008897 [rarediseases.info.nih.gov]

facial features 33 HP:0000280 24 absent speech 33 HP:0001344 25 postnatal growth retardation 33 HP:0008897 26 chorioretinal coloboma 33 HP:0000567 27 abnormality of the face 60 Very frequent (99-80%) 28 abnormal hair pattern 60 Very frequent (99-80%) [malacards.org]

Showing of 31 80%-99% of people have these symptoms Deeply set eye Deep set eye Deep-set eyes Sunken eye [ more ] 0000490 Downturned corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Genu valgum Knock knees 0002857 Hypogonadism [rarediseases.info.nih.gov]

[…] phenotypes related to Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type: 60 33 (show all 32) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470 2 genu [malacards.org]

[…] posteriorly rotated ears 0000368 Microtia Small ears Underdeveloped ears [ more ] 0008551 Reduced bone mineral density Low solidness and mass of the bones 0004349 Scrotal hypoplasia Smaller than typical growth of scrotum 0000046 Severe sensorineural hearing [rarediseases.info.nih.gov]

impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0008625 22 obesity 33 HP:0001513 23 coarse facial features 33 HP:0000280 24 absent speech 33 HP:0001344 25 postnatal growth retardation 33 HP:0008897 26 chorioretinal coloboma 33 HP:0000567 27 [malacards.org]

Congenital toxoplasmosis may result in significant problems in approximately 20% of infected infants (eg, hydrocephalus, microcephaly, psychomotor retardation, vision and hearing impairment) and in milder developmental problems later in life. [emedicine.medscape.com]

posteriorly rotated ears 0000368 Microtia Small ears Underdeveloped ears [ more ] 0008551 Reduced bone mineral density Low solidness and mass of the bones 0004349 Scrotal hypoplasia Smaller than typical growth of scrotum 0000046 Severe sensorineural [rarediseases.info.nih.gov]

posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368 15 downturned corners of mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0002714 16 hypoplasia of penis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008736 17 spina [malacards.org]

She was slightly mentally impaired and had microphthalmia and large ears, and short stature. She had a complete uterus with tubae and a single intraabdominal gonad with testicular organization at birth. These were removed during infancy. [malacards.org]

nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Percent of people who have these symptoms is not available through HPO Absent speech Absent speech development Lack of language development Lack of speech No speech development No speech [rarediseases.info.nih.gov]

Clinical features included short stature, coarse face, deep set eyes, microphthalmia, large ears, gynoid obesity, imperforate anus, sacral spina bifida, pseudovaginal perineoscrotal hypospadias, persistence of Mullerian structures, and low gonadotrophin [malacards.org]

neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short philtrum 0000322 Short thorax Shorter than typical length between neck and abdomen 0010306 Spina bifida occulta 0003298 Synophrys Monobrow [rarediseases.info.nih.gov]

Human phenotypes related to Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type: 60 33 (show all 32) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470 [malacards.org]

nose Decreased length of nose Shortened nose [ more ] 0003196 Short philtrum 0000322 Short thorax Shorter than typical length between neck and abdomen 0010306 Spina bifida occulta 0003298 Synophrys Monobrow Unibrow [ more ] 0000664 Thin vermilion border [rarediseases.info.nih.gov]

Very frequent (99-80%) HP:0000470 2 genu valgum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002857 3 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249 4 kyphosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002808 5 short [malacards.org]

Showing of 31 80%-99% of people have these symptoms Deeply set eye Deep set eye Deep-set eyes Sunken eye [ more ] 0000490 Downturned corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Genu valgum Knock knees 0002857 Hypogonadism [rarediseases.info.nih.gov]

lips [ more ] 0000233 Wide intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Percent of people who have these symptoms is not available through HPO Absent speech Absent speech development Lack of [rarediseases.info.nih.gov]

development Lack of language development Lack of speech No speech development No speech or language development Nonverbal [ more ] 0001344 Autosomal recessive inheritance 0000007 Bilateral microphthalmos Abnormally small eyeball on both sides 0007633 [rarediseases.info.nih.gov]

Although speech develops more slowly, expressive language later becomes a strength. However, thinking remains concrete. Therefore, figurative speech, such as metaphor, is difficult to grasp. [mentalhelp.net]

In addition to eye abnormalities, affected individuals may also have neurological abnormalities including diminished muscle tone (hypotonia), delays in speech development, varying degrees of cognitive impairment, poor coordination and clumsiness, and [rarediseases.org]

development (in some patients) Head And Neck Ears: sensorineural hearing loss, severe Clinical features from OMIM: 600122 [malacards.org]