Ataxia, and Ambiguous genitalia

Diseases related with Ataxia and Ambiguous genitalia

In the following list you will find some of the most common rare diseases related to Ataxia and Ambiguous genitalia that can help you solving undiagnosed cases.


Top matches:

Low match 46,XX GONADAL DYSGENESIS


46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.

46,XX GONADAL DYSGENESIS Is also known as xx female gonadal dysgenesis|46,xx pure gonadal dysgenesis|46,xx complete gonadal dysgenesis|follicular stimulating hormone-resistant ovaries|hypergonadotropic ovarian dysgenesis|xx-gd|46,xx ovarian dysgenesis|fsh-ro

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about 46,XX GONADAL DYSGENESIS

Low match ACROCALLOSAL SYNDROME


Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

Low match WAGR SYNDROME


WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

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Other less relevant matches:

Low match X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA


X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

Low match VAN DER WOUDE SYNDROME 1; VWS1


Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Genetic Heterogeneity of van der Woude SyndromeAlso see VWS2 (OMIM ), caused by mutation in the GRHL3 gene (OMIM ) on chromosome 1p36.

VAN DER WOUDE SYNDROME 1; VWS1 Is also known as cleft lip and/or palate with mucous cysts of lower lip|pit|lps|lip-pit syndrome|vdws

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about VAN DER WOUDE SYNDROME 1; VWS1

Low match PONTOCEREBELLAR HYPOPLASIA TYPE 7


Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome|pch7

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7

Low match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Low match FILIPPI SYNDROME


Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI SYNDROME

Low match DESMOSTEROLOSIS


Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DESMOSTEROLOSIS

Low match NEU-LAXOVA SYNDROME


Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

NEU-LAXOVA SYNDROME Is also known as neu-laxova syndrome|3-phosphoglycerate dehydrogenase deficiency, neonatal form|nls

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Ambiguous genitalia

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Ambiguous genitalia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Short stature Flexion contracture Hypertelorism Generalized hypotonia Toe syndactyly Syndactyly Cleft palate Spasticity Agenesis of corpus callosum Ventriculomegaly Patent ductus arteriosus Epicanthus Wide nasal bridge Ventricular septal defect Bifid uvula Muscular hypotonia Pachygyria Everted lower lip vermilion Scoliosis Nystagmus Finger syndactyly Prominent forehead Thin upper lip vermilion Specific learning disability Micropenis Lissencephaly Optic atrophy High palate Hypertonia Intrauterine growth retardation Talipes equinovarus Growth delay Abnormal facial shape Clinodactyly of the 5th finger Clinodactyly

Rare Symptoms - Less than 30% cases


Downslanted palpebral fissures Depressed nasal ridge Hydranencephaly Profound global developmental delay Abnormal cortical gyration Telecanthus Severe short stature Thick lower lip vermilion Postnatal microcephaly Aganglionic megacolon Dysphasia Hypoplasia of penis Macrogyria Gliosis Pulmonary hypoplasia Submucous cleft hard palate Feeding difficulties in infancy High forehead Failure to thrive Abnormality of the skeletal system Frontal bossing Prominent nasal bridge Finger clinodactyly Absent septum pellucidum Generalized hirsutism Hypoplasia of the corpus callosum Retrognathia Cerebellar hypoplasia Depressed nasal bridge Arthrogryposis multiplex congenita Micromelia Polymicrogyria Renal agenesis Limb undergrowth Hypogonadism Pterygium Macrotia Dystonia Hypodontia Abnormality of neuronal migration Cleft upper lip Muscular hypotonia of the trunk Neurological speech impairment Spastic paraplegia 2-4 toe syndactyly Brachydactyly Joint stiffness Cleft lip Anteverted nares Feeding difficulties Joint contracture of the hand Proptosis Hyperreflexia Dandy-Walker malformation Cataract Sensorineural hearing impairment Visual impairment Streak ovary Microphthalmia Aplasia/Hypoplasia of the corpus callosum Oculomotor apraxia Wide anterior fontanel Sloping forehead Abnormality of the genital system Polydactyly Hypospadias Low-set ears Macrocephaly Intellectual disability, severe Delayed skeletal maturation Osteopenia Prominent occiput Limb dystonia Aphasia Frontal hirsutism Enlarged epiphyses Abnormality of nervous system morphology Strabismus Hydrocephalus Narrow nasal bridge Generalized edema Clinodactyly of the 5th toe Abnormality of digit Cutaneous finger syndactyly Anteverted ears Narrow naris Limb hypertonia Narrow nose Aplastic/hypoplastic toenail Lack of skin elasticity Low hanging columella High anterior hairline Echolalia Broad columella Cutaneous syndactyly of toes Supernumerary nipple Congenital microcephaly Trismus Calcaneovalgus deformity Short middle phalanx of finger Aplasia/Hypoplasia involving the skeletal musculature Thick eyebrow Bulbous nose Thin vermilion border Smooth philtrum Paraplegia Synophrys Small placenta Hirsutism Short umbilical cord Ablepharon Abnormality of limbs Small for gestational age Broad forehead Type III lissencephaly Short philtrum Choroid plexus cyst Wide nose Mutism Decreased body weight Widely spaced teeth Cutaneous syndactyly Short chin Abnormality of the philtrum Bilateral single transverse palmar creases Long eyelashes Abnormal nasolacrimal system morphology Hypertrichosis Single transverse palmar crease Fine hair Small nail Microdontia Abnormality of the cerebellar vermis Bifid uterus Underdeveloped nasal alae Limitation of joint mobility Splenomegaly Broad foot Abnormal eyelid morphology Abnormality of the nose Muscular dystrophy Ichthyosis Thick vermilion border Anomalous pulmonary venous return Generalized osteosclerosis Muscle cramps Ectodermal dysplasia Gingival fibromatosis Abnormality of the skin Cerebral calcification Sparse hair Osteopetrosis Decreased fetal movement Abnormality of the hair Abnormal cardiac septum morphology Wide mouth Spina bifida Ambiguous genitalia, female Hypoplastic nasal bridge Abnormality of cholesterol metabolism Skeletal muscle atrophy Short neck Edema Kyphosis Total anomalous pulmonary venous return Abnormality of the pinna Abnormality of cardiovascular system morphology Osteoporosis Polyhydramnios Camptodactyly Abnormality of earlobe Ambiguous genitalia, male Aplasia/Hypoplasia of the skin Patent foramen ovale Short nose Low-set, posteriorly rotated ears External genital hypoplasia Transposition of the great arteries Intestinal malrotation Osteomalacia Talipes Abnormal eyelash morphology Rigidity Rhizomelia Severe intrauterine growth retardation Abnormality of the mouth Absent eyelashes Alveolar ridge overgrowth Narrow mouth Posteriorly rotated ears Status epilepticus Increased bone mineral density Partial agenesis of the corpus callosum Metatarsus adductus Bilateral talipes equinovarus Rickets Ectropion Large hands Radial deviation of finger Rocker bottom foot Bilateral cryptorchidism Muscle stiffness Opisthotonus Cupped ear Dermal atrophy Relative macrocephaly Renal hypoplasia/aplasia Microretrognathia Large earlobe Anemia Postnatal growth retardation Hemihypertrophy Displacement of the external urethral meatus Aplasia/Hypoplasia of the iris Abnormal vagina morphology Peters anomaly Gonadoblastoma Abnormality of the uterus Renal neoplasm Motor delay Hearing abnormality Acute lymphoblastic leukemia Aniridia Nephroblastoma Abnormality of the genitourinary system Microcornea Nephropathy Dysfunction of lateral corticospinal tracts Diarrhea Corneal opacity Exocrine pancreatic insufficiency Respiratory distress Type I lissencephaly Temperature instability Abnormality of temperature regulation Duane anomaly Long upper lip Infantile spasms Long philtrum Hypohidrosis Chronic diarrhea Decreased testicular size Malabsorption Severe global developmental delay Respiratory failure Hyperactivity Leukemia Hypertrophic cardiomyopathy Oral cleft Secondary amenorrhea Aplasia/hypoplasia of the uterus Aplasia/Hypoplasia of the breasts Decreased serum estradiol Sparse pubic hair Increased circulating gonadotropin level Gonadal dysgenesis Decreased fertility Abnormality of secondary sexual hair Pulmonary fibrosis Premature ovarian insufficiency Reduced bone mineral density Primary amenorrhea Arachnodactyly Delayed puberty Abnormality of metabolism/homeostasis Osteoporosis of vertebrae Inguinal hernia Glaucoma Molar tooth sign on MRI Obesity Renal insufficiency Cardiomyopathy Ptosis Neoplasm Abnormality of the clavicle Nephronophthisis Aplasia/Hypoplasia of the cerebellum Retinopathy Triphalangeal thumb Tall stature Apraxia Congenital diaphragmatic hernia Postaxial hand polydactyly Retinal dystrophy Postaxial polydactyly Difficulty walking Falls Intellectual disability, moderate Midface retrusion Hydronephrosis Gastroesophageal reflux Autism Cerebral cortical atrophy Constipation Depressivity Behavioral abnormality Nausea and vomiting Abnormality of the dentition Blindness Myopia Hearing impairment Olivopontocerebellar hypoplasia Microphallus Sex reversal Abnormality of the kidney Abnormality of movement Hypoplasia of the pons Abnormal hemoglobin Brachycephaly Cerebellar atrophy Atrial septal defect Abnormality of the male genitalia Abnormality of fontanelles U-Shaped upper lip vermilion Volvulus Flat face Male pseudohermaphroditism Self-injurious behavior Encephalitis Tented upper lip vermilion Abnormality of the face Recurrent urinary tract infections Macroglossia Thick upper lip vermilion Nevus flammeus Otitis media Hypoplastic labia majora Fibrous syngnathia Lip pit Nonketotic hyperglycinemia Popliteal pterygium Ankyloblepharon Ankyloglossia Non-midline cleft lip Intercrural pterygium Bifid scrotum Scrotal hypoplasia Cerebral palsy Abnormality of the nail Choanal atresia Split hand Abnormality of the ribs Lower lip pit Muscle weakness Flat occiput Delayed myelination Hypoplasia of the brainstem Clitoral hypertrophy Prominent supraorbital ridges Hypergonadotropic hypogonadism Fasciculations Progressive microcephaly Esotropia Nevus Cerebral atrophy Chorea Abnormality of the cerebral white matter Irritability Apnea Upslanted palpebral fissure Myoclonus Absent speech Yellow subcutaneous tissue covered by thin, scaly skin



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