Ataxia, and Hypoplasia of penis

Diseases related with Ataxia and Hypoplasia of penis

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


Top matches:

Medium match LISSENCEPHALY, X-LINKED, 1; LISX1


Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profound mental retardation and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome (des Portes et al., 1997).There are several X-linked loci that affect neuronal migration, including the Aicardi locus (OMIM ).

LISSENCEPHALY, X-LINKED, 1; LISX1 Is also known as xlis|lissencephaly and agenesis of corpus callosum

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY, X-LINKED, 1; LISX1

Medium match WEST SYNDROME


West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

WEST SYNDROME Is also known as intellectual disability-hypsarrhythmia syndrome|infantile spasm syndrome, x-linked 1|xmesid|west syndrome, x-linked|ohtahara syndrome, x-linked|infantile spasms|infantile epileptic-dyskinetic encephalopathy|issx1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about WEST SYNDROME

Medium match HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

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Other less relevant matches:

Medium match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2


Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Medium match JOUBERT SYNDROME 26; JBTS26


Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

Medium match X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME


X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Medium match LAURENCE-MOON SYNDROME


Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

Medium 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

Medium match LAURENCE-MOON SYNDROME; LNMS


Laurence-Moon syndrome has a clinical presentation similar to that of Oliver-McFarlane syndrome (OMIM ), including chorioretinopathy and pituitary dysfunction, but with childhood onset of ataxia, peripheral neuropathy, and spastic paraplegia and without trichomegaly. Historically, Laurence-Moon syndrome has been associated with Bardet-Biedl syndrome (see BBS, {209900}) (summary by Hufnagel et al., 2015).Oliver-McFarlane syndrome is an allelic disorder.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LAURENCE-MOON SYNDROME; LNMS

Top 5 symptoms//phenotypes associated to Ataxia and Hypoplasia of penis

Symptoms // Phenotype % cases
Micropenis Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Hypoplasia of penis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Intellectual disability, severe Seizures Sensorineural hearing impairment Strabismus Delayed speech and language development Gait ataxia Lissencephaly Microphallus Scrotal hypoplasia Cognitive impairment Cerebellar hypoplasia Generalized hypotonia Cleft palate Motor delay Spasticity Microcephaly Hypotelorism

Rare Symptoms - Less than 30% cases


Hypogonadism High palate Polydactyly Retinopathy Hearing impairment Global brain atrophy External genital hypoplasia Hypospadias Cataract Tremor Poor speech Dysmetria Intention tremor Hypertelorism Frontal bossing Autism Apraxia Oculomotor apraxia Macrocephaly Brain atrophy Cleft lip Molar tooth sign on MRI Dysarthria Ventriculomegaly Epicanthus Sloping forehead Intellectual disability, profound Heterotopia Muscular hypotonia of the trunk Abnormal facial shape Ptosis Growth delay Enlarged cisterna magna Coxa valga Accelerated skeletal maturation Focal-onset seizure Infra-orbital crease Retrocerebellar cyst Cerebellar vermis hypoplasia Prominent supraorbital ridges Abnormality of the philtrum Poor eye contact Focal impaired awareness seizure Long nose Triangular face Rhizomelia Astigmatism Retrognathia Prominent nose Metaphyseal widening Abnormal cerebellum morphology Mandibular prognathia Inferior vermis hypoplasia Muscular hypotonia Dilatation Prominent forehead Hyperactivity Cerebral cortical atrophy Obstructive sleep apnea Scaphocephaly Macrotia Long face Thin upper lip vermilion Deeply set eye Neonatal hypotonia Intellectual disability, moderate Attention deficit hyperactivity disorder Short philtrum 2-3 toe syndactyly Ventricular septal defect Neurological speech impairment Disorganization of the anterior cerebellar vermis Short metacarpal Brachydactyly Prominent occiput Short 1st metacarpal Hypopituitarism Congenital diaphragmatic hernia Tall stature Wide anterior fontanel Aplasia/Hypoplasia of the corpus callosum Triphalangeal thumb Aplasia/Hypoplasia of the cerebellum Abnormality of the hand Nephronophthisis Failure to thrive Abnormality of the clavicle Flexion contracture Peripheral neuropathy Alopecia Rod-cone dystrophy Spastic paraplegia Long eyelashes Paraplegia Retinal degeneration Thick eyebrow Choroideremia Ambiguous genitalia Pigmentary retinopathy Congenital hepatic fibrosis Abnormality of cardiovascular system morphology Obesity Brachycephaly Low-set, posteriorly rotated ears Finger syndactyly Iris coloboma Type II diabetes mellitus Bilateral single transverse palmar creases Hand polydactyly Displacement of the external urethral meatus Micrognathia Abnormality of the antitragus Intrauterine growth retardation Myopia Inguinal hernia Feeding difficulties Postaxial polydactyly Retinal dystrophy Dandy-Walker malformation Postaxial hand polydactyly Ectopic posterior pituitary Renal insufficiency Truncal ataxia Central hypothyroidism Epileptic spasms Hypsarrhythmia Status epilepticus Tetraparesis Choreoathetosis Progressive microcephaly Spastic tetraparesis Hyperkinesis Infantile spasms Muscle fibrillation Developmental stagnation Chorea Spastic ataxia Abnormality of skin morphology Pes cavus Abnormality of the eye Delayed puberty Abnormality of eye movement Facial asymmetry Oral cleft Ichthyosis Renal agenesis Epileptic encephalopathy Generalized myoclonic seizures Gynecomastia Type I lissencephaly Intellectual disability, mild Agenesis of corpus callosum Postnatal growth retardation Severe global developmental delay Bulbous nose Narrow forehead Pachygyria Spontaneous abortion Abnormality of neuronal migration Agyria Subependymal nodules Dyskinesia Low-set ears Hyperreflexia Dysphagia Hypertonia Dystonia Encephalopathy Myoclonus Dyspnea Abnormality of the nervous system Developmental regression Decreased testicular size Hypogonadotrophic hypogonadism Panhypopituitarism Thoracic kyphosis Short palm Hirsutism Inability to walk Small hand Short foot Intellectual disability, progressive Dysdiadochokinesis Cortical dysplasia Thoracic scoliosis Abnormality of the neck Coarse facial features Atrophy of the dentate nucleus Aplasia of the inferior half of the cerebellar vermis Anteverted nares Recurrent infections Hypothyroidism Growth hormone deficiency Tachypnea Cone/cone-rod dystrophy Recurrent upper respiratory tract infections Bilateral ptosis Abnormal pyramidal sign Hyporeflexia Holoprosencephaly Bilateral renal agenesis Azoospermia Anosmia Unilateral renal agenesis Bilateral cryptorchidism Anodontia Sparse pubic hair Hyposmia Abnormal renal morphology Testicular atrophy Bimanual synkinesia Eunuchoid habitus Absent speech Alobar holoprosencephaly Decreased circulating luteinizing hormone level Olfactory lobe agenesis Hypothalamic gonadotropin-releasing hormone deficiency Decreased circulating follicle stimulating hormone level Leydig cell insensitivity to gonadotropin Total anosmia Hypoplasia of the corpus callosum Cerebellar atrophy Kyphosis Broad femoral neck



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